{"id":185469,"date":"2025-08-29T20:25:33","date_gmt":"2025-08-29T20:25:33","guid":{"rendered":"https:\/\/www.europesays.com\/us\/185469\/"},"modified":"2025-08-29T20:25:33","modified_gmt":"2025-08-29T20:25:33","slug":"epidemiological-report-and-diagnostic-approach-used-in-the-neuromuscular-population-of-liege-belgium-orphanet-journal-of-rare-diseases","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/185469\/","title":{"rendered":"Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium | Orphanet Journal of Rare Diseases"},"content":{"rendered":"<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"1.\">\n<p class=\"c-article-references__text\" id=\"ref-CR1\">Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012;49:33\u201348.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC38XltVKhtLk%3D\" aria-label=\"CAS reference 1\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=22468856\" aria-label=\"PubMed reference 1\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 1\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genetics%20of%20neuromuscular%20disorders&amp;journal=Crit%20Rev%20Clin%20Lab%20Sci&amp;volume=49&amp;pages=33-48&amp;publication_year=2012&amp;author=Laing%2CNG\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"2.\">\n<p class=\"c-article-references__text\" id=\"ref-CR2\">Carey IM, Banchoff E, Nirmalananthan N, Harris T, DeWilde S, Chaudhry UAR, et al. Prevalence and incidence of neuromuscular conditions in the UK between 2000 and 2019: a retrospective study using primary care data. PLoS ONE. 2021. <a href=\"https:\/\/doi.org\/10.1371\/journal.pone.0261983\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1371\/journal.pone.0261983\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1371\/journal.pone.0261983<\/a>.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34972157\" aria-label=\"PubMed reference 2\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8719665\" aria-label=\"PubMed Central reference 2\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 2\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Prevalence%20and%20incidence%20of%20neuromuscular%20conditions%20in%20the%20UK%20between%202000%20and%202019%3A%20a%20retrospective%20study%20using%20primary%20care%20data&amp;journal=PLoS%20ONE&amp;doi=10.1371%2Fjournal.pone.0261983&amp;publication_year=2021&amp;author=Carey%2CIM&amp;author=Banchoff%2CE&amp;author=Nirmalananthan%2CN&amp;author=Harris%2CT&amp;author=DeWilde%2CS&amp;author=Chaudhry%2CUAR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"3.\">\n<p class=\"c-article-references__text\" id=\"ref-CR3\">M\u00fcller KI, Ghelue MV, Lund I, Jonsrud C, Arntzen KA. The prevalence of hereditary neuromuscular disorders in Northern Norway. Brain Behav. 2021;11: e01948.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33185984\" aria-label=\"PubMed reference 3\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 3\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20prevalence%20of%20hereditary%20neuromuscular%20disorders%20in%20Northern%20Norway&amp;journal=Brain%20Behav&amp;volume=11&amp;publication_year=2021&amp;author=M%C3%BCller%2CKI&amp;author=Ghelue%2CMV&amp;author=Lund%2CI&amp;author=Jonsrud%2CC&amp;author=Arntzen%2CKA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"4.\">\n<p class=\"c-article-references__text\" id=\"ref-CR4\">Lek M, MacArthur D. The challenge of next generation sequencing in the context of neuromuscular diseases. J Neuromuscul Dis. 2014;1:135\u201349.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27858772\" aria-label=\"PubMed reference 4\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 4\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20challenge%20of%20next%20generation%20sequencing%20in%20the%20context%20of%20neuromuscular%20diseases&amp;journal=J%20Neuromuscul%20Dis&amp;volume=1&amp;pages=135-149&amp;publication_year=2014&amp;author=Lek%2CM&amp;author=MacArthur%2CD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"5.\">\n<p class=\"c-article-references__text\" id=\"ref-CR5\">Koczwara KE, Lake NJ, DeSimone AM, Lek M. Neuromuscular disorders: finding the missing genetic diagnoses. Trends Genet. 2022;38:956\u201371.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XhvVCgsbnL\" aria-label=\"CAS reference 5\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35908999\" aria-label=\"PubMed reference 5\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 5\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Neuromuscular%20disorders%3A%20finding%20the%20missing%20genetic%20diagnoses&amp;journal=Trends%20Genet&amp;volume=38&amp;pages=956-971&amp;publication_year=2022&amp;author=Koczwara%2CKE&amp;author=Lake%2CNJ&amp;author=DeSimone%2CAM&amp;author=Lek%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"6.\">\n<p class=\"c-article-references__text\" id=\"ref-CR6\">Benarroch L, Bonne G, Rivier F, Hamroun D. The 2024 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2024;34:126\u201370.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38253411\" aria-label=\"PubMed reference 6\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 6\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%202024%20version%20of%20the%20gene%20table%20of%20neuromuscular%20disorders%20%28nuclear%20genome%29&amp;journal=Neuromuscul%20Disord&amp;volume=34&amp;pages=126-170&amp;publication_year=2024&amp;author=Benarroch%2CL&amp;author=Bonne%2CG&amp;author=Rivier%2CF&amp;author=Hamroun%2CD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"7.\">\n<p class=\"c-article-references__text\" id=\"ref-CR7\">Est\u00e9vez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, et al. Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur J Hum Genet. 2024. <a href=\"https:\/\/doi.org\/10.1038\/s41431-024-01699-4\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1038\/s41431-024-01699-4\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1038\/s41431-024-01699-4<\/a>.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39658675\" aria-label=\"PubMed reference 7\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 7\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Phenotype-driven%20genomics%20enhance%20diagnosis%20in%20children%20with%20unresolved%20neuromuscular%20diseases&amp;journal=Eur%20J%20Hum%20Genet&amp;doi=10.1038%2Fs41431-024-01699-4&amp;publication_year=2024&amp;author=Est%C3%A9vez-Arias%2CB&amp;author=Matalonga%2CL&amp;author=Yubero%2CD&amp;author=Polavarapu%2CK&amp;author=Codina%2CA&amp;author=Ortez%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"8.\">\n<p class=\"c-article-references__text\" id=\"ref-CR8\">Mary P, Servais L, Vialle R. Neuromuscular diseases: Diagnosis and management. Orthop Traumatol Surg Res. 2018;104:S89-95.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:STN:280:DC%2BC1M3ntVGlsQ%3D%3D\" aria-label=\"CAS reference 8\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29196274\" aria-label=\"PubMed reference 8\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 8\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Neuromuscular%20diseases%3A%20Diagnosis%20and%20management&amp;journal=Orthop%20Traumatol%20Surg%20Res&amp;volume=104&amp;pages=S89-95&amp;publication_year=2018&amp;author=Mary%2CP&amp;author=Servais%2CL&amp;author=Vialle%2CR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"9.\">\n<p class=\"c-article-references__text\" id=\"ref-CR9\">Van den Bergh PYK, van Doorn PA, Hadden RDM, Avau B, Vankrunkelsven P, Allen JA, et al. European Academy of Neurology\/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force\u2014Second revision. J Peripher Nerv Syst. 2021;26:242\u201368.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34085743\" aria-label=\"PubMed reference 9\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 9\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=European%20Academy%20of%20Neurology%2FPeripheral%20Nerve%20Society%20guideline%20on%20diagnosis%20and%20treatment%20of%20chronic%20inflammatory%20demyelinating%20polyradiculoneuropathy%3A%20Report%20of%20a%20joint%20Task%20Force%E2%80%94Second%20revision&amp;journal=J%20Peripher%20Nerv%20Syst&amp;volume=26&amp;pages=242-268&amp;publication_year=2021&amp;author=Bergh%2CPYK&amp;author=Doorn%2CPA&amp;author=Hadden%2CRDM&amp;author=Avau%2CB&amp;author=Vankrunkelsven%2CP&amp;author=Allen%2CJA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"10.\">\n<p class=\"c-article-references__text\" id=\"ref-CR10\">Aragon-Gawinska K, Mouraux C, Dangouloff T, Servais L. Spinal muscular atrophy treatment in patients identified by newborn screening-a systematic review. Genes (Basel). 2023;14:1377.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXhs1altrzM\" aria-label=\"CAS reference 10\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37510282\" aria-label=\"PubMed reference 10\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10379202\" aria-label=\"PubMed Central reference 10\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 10\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Spinal%20muscular%20atrophy%20treatment%20in%20patients%20identified%20by%20newborn%20screening-a%20systematic%20review&amp;journal=Genes%20%28Basel%29.&amp;volume=14&amp;publication_year=2023&amp;author=Aragon-Gawinska%2CK&amp;author=Mouraux%2CC&amp;author=Dangouloff%2CT&amp;author=Servais%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"11.\">\n<p class=\"c-article-references__text\" id=\"ref-CR11\">Nicolau S, Milone M, Liewluck T. Guidelines for genetic testing of muscle and neuromuscular junction disorders. Muscle Nerve. 2021;64:255\u201369.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34133031\" aria-label=\"PubMed reference 11\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 11\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Guidelines%20for%20genetic%20testing%20of%20muscle%20and%20neuromuscular%20junction%20disorders&amp;journal=Muscle%20Nerve&amp;volume=64&amp;pages=255-269&amp;publication_year=2021&amp;author=Nicolau%2CS&amp;author=Milone%2CM&amp;author=Liewluck%2CT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"12.\">\n<p class=\"c-article-references__text\" id=\"ref-CR12\">Rosenberg A, Tian C, He H, Ulm E, Collins Ruff K, Nagaraj CB. An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders. Am J Med Genet A. 2023;191:2679\u201392.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXhs1Sks73M\" aria-label=\"CAS reference 12\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37503964\" aria-label=\"PubMed reference 12\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 12\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=An%20evaluation%20of%20clinical%20presentation%20and%20genetic%20testing%20approaches%20for%20patients%20with%20neuromuscular%20disorders&amp;journal=Am%20J%20Med%20Genet%20A&amp;volume=191&amp;pages=2679-2692&amp;publication_year=2023&amp;author=Rosenberg%2CA&amp;author=Tian%2CC&amp;author=He%2CH&amp;author=Ulm%2CE&amp;author=Collins%20Ruff%2CK&amp;author=Nagaraj%2CCB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"13.\">\n<p class=\"c-article-references__text\" id=\"ref-CR13\">Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M. Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls. Neurol Genet. 2019;5: e341.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXhvFWlurrL\" aria-label=\"CAS reference 13\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31321302\" aria-label=\"PubMed reference 13\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6563518\" aria-label=\"PubMed Central reference 13\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 13\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Congenital%20myopathies%20in%20the%20adult%20neuromuscular%20clinic%3A%20Diagnostic%20challenges%20and%20pitfalls&amp;journal=Neurol%20Genet.&amp;volume=5&amp;publication_year=2019&amp;author=Nicolau%2CS&amp;author=Liewluck%2CT&amp;author=Tracy%2CJA&amp;author=Laughlin%2CRS&amp;author=Milone%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"14.\">\n<p class=\"c-article-references__text\" id=\"ref-CR14\">Sivera Mascar\u00f3 R, Garc\u00eda Sobrino T, Horga Hern\u00e1ndez A, Pelayo Negro AL, Alonso Jim\u00e9nez A, Antelo Pose A, et al. Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease. Neurolog\u00eda (English Edition). 2024;40(3):290\u2013305.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 14\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Clinical%20practice%20guidelines%20for%20the%20diagnosis%20and%20management%20of%20Charcot-Marie-Tooth%20disease&amp;journal=Neurolog%C3%ADa%20%28English%20Edition%29.&amp;volume=40&amp;issue=3&amp;pages=290-305&amp;publication_year=2024&amp;author=Sivera%20Mascar%C3%B3%2CR&amp;author=Garc%C3%ADa%20Sobrino%2CT&amp;author=Horga%20Hern%C3%A1ndez%2CA&amp;author=Pelayo%20Negro%2CAL&amp;author=Alonso%20Jim%C3%A9nez%2CA&amp;author=Antelo%20Pose%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"15.\">\n<p class=\"c-article-references__text\" id=\"ref-CR15\">Vill K, Blaschek A, Gl\u00e4ser D, Kuhn M, Haack T, Alhaddad B, et al. Early-onset myopathies: clinical findings, prevalence of subgroups and diagnostic approach in a single neuromuscular referral center in Germany. J Neuromuscul Dis. 2017;4:315\u201325.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:STN:280:DC%2BC1M3ks1eisg%3D%3D\" aria-label=\"CAS reference 15\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29172004\" aria-label=\"PubMed reference 15\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 15\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Early-onset%20myopathies%3A%20clinical%20findings%2C%20prevalence%20of%20subgroups%20and%20diagnostic%20approach%20in%20a%20single%20neuromuscular%20referral%20center%20in%20Germany&amp;journal=J%20Neuromuscul%20Dis&amp;volume=4&amp;pages=315-325&amp;publication_year=2017&amp;author=Vill%2CK&amp;author=Blaschek%2CA&amp;author=Gl%C3%A4ser%2CD&amp;author=Kuhn%2CM&amp;author=Haack%2CT&amp;author=Alhaddad%2CB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"16.\">\n<p class=\"c-article-references__text\" id=\"ref-CR16\">Cohen E, Bonne G, Rivier F, Hamroun D. The 2022 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2021;31:1313\u201357.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34930546\" aria-label=\"PubMed reference 16\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 16\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%202022%20version%20of%20the%20gene%20table%20of%20neuromuscular%20disorders%20%28nuclear%20genome%29&amp;journal=Neuromuscul%20Disord&amp;volume=31&amp;pages=1313-1357&amp;publication_year=2021&amp;author=Cohen%2CE&amp;author=Bonne%2CG&amp;author=Rivier%2CF&amp;author=Hamroun%2CD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"17.\">\n<p class=\"c-article-references__text\" id=\"ref-CR17\">Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, et al. Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society Task Force &#8211; an update. Mov Disord. 2022;37:905\u201335.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35481685\" aria-label=\"PubMed reference 17\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 17\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Nomenclature%20of%20genetic%20movement%20disorders%3A%20recommendations%20of%20the%20International%20Parkinson%20and%20Movement%20Disorder%20Society%20Task%20Force%20-%20an%20update&amp;journal=Mov%20Disord&amp;volume=37&amp;pages=905-935&amp;publication_year=2022&amp;author=Lange%2CLM&amp;author=Gonzalez-Latapi%2CP&amp;author=Rajalingam%2CR&amp;author=Tijssen%2CMAJ&amp;author=Ebrahimi-Fakhari%2CD&amp;author=Gabbert%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"18.\">\n<p class=\"c-article-references__text\" id=\"ref-CR18\">Boemer F, Caberg JH, Beckers P, Dideberg V, di Fiore S, Bours V, et al. Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Sci Rep. 2021. <a href=\"https:\/\/doi.org\/10.1038\/s41598-021-99496-2\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1038\/s41598-021-99496-2\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1038\/s41598-021-99496-2<\/a>.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34620959\" aria-label=\"PubMed reference 18\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8497564\" aria-label=\"PubMed Central reference 18\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 18\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Three%20years%20pilot%20of%20spinal%20muscular%20atrophy%20newborn%20screening%20turned%20into%20official%20program%20in%20Southern%20Belgium&amp;journal=Sci%20Rep&amp;doi=10.1038%2Fs41598-021-99496-2&amp;publication_year=2021&amp;author=Boemer%2CF&amp;author=Caberg%2CJH&amp;author=Beckers%2CP&amp;author=Dideberg%2CV&amp;author=Fiore%2CS&amp;author=Bours%2CV\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"19.\">\n<p class=\"c-article-references__text\" id=\"ref-CR19\">Deenen JCW, Horlings CGC, Verschuuren JJGM, Verbeek ALM, Van Engelen BGM. The epidemiology of neuromuscular disorders: a comprehensive overview of the literature. J Neuromuscul Dis. 2015;2:73\u201385.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=28198707\" aria-label=\"PubMed reference 19\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 19\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20epidemiology%20of%20neuromuscular%20disorders%3A%20a%20comprehensive%20overview%20of%20the%20literature&amp;journal=J%20Neuromuscul%20Dis&amp;volume=2&amp;pages=73-85&amp;publication_year=2015&amp;author=Deenen%2CJCW&amp;author=Horlings%2CCGC&amp;author=Verschuuren%2CJJGM&amp;author=Verbeek%2CALM&amp;author=Engelen%2CBGM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"20.\">\n<p class=\"c-article-references__text\" id=\"ref-CR20\">Magda P, Latov N, Brannagan TH, Weimer LH, Chin RL, Sander HW. Comparison of electrodiagnostic abnormalities and criteria in a cohort of patients with chronic inflammatory demyelinating polyneuropathy. Arch Neurol. 2003;60:1755\u20139.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=14676052\" aria-label=\"PubMed reference 20\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 20\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Comparison%20of%20electrodiagnostic%20abnormalities%20and%20criteria%20in%20a%20cohort%20of%20patients%20with%20chronic%20inflammatory%20demyelinating%20polyneuropathy&amp;journal=Arch%20Neurol&amp;volume=60&amp;pages=1755-1759&amp;publication_year=2003&amp;author=Magda%2CP&amp;author=Latov%2CN&amp;author=Brannagan%2CTH&amp;author=Weimer%2CLH&amp;author=Chin%2CRL&amp;author=Sander%2CHW\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"21.\">\n<p class=\"c-article-references__text\" id=\"ref-CR21\">Norwood FLM, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132:3175\u201386.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=19767415\" aria-label=\"PubMed reference 21\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 21\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Prevalence%20of%20genetic%20muscle%20disease%20in%20Northern%20England%3A%20in-depth%20analysis%20of%20a%20muscle%20clinic%20population&amp;journal=Brain&amp;volume=132&amp;pages=3175-3186&amp;publication_year=2009&amp;author=Norwood%2CFLM&amp;author=Harling%2CC&amp;author=Chinnery%2CPF&amp;author=Eagle%2CM&amp;author=Bushby%2CK&amp;author=Straub%2CV\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"22.\">\n<p class=\"c-article-references__text\" id=\"ref-CR22\">Farhad K, Traub R, Ruzhansky KM, Brannagan TH. Causes of neuropathy in patients referred as \u201cidiopathic neuropathy.\u201d Muscle Nerve. 2016;53:856\u201361.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=26561790\" aria-label=\"PubMed reference 22\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 22\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Causes%20of%20neuropathy%20in%20patients%20referred%20as%20%E2%80%9Cidiopathic%20neuropathy%E2%80%9D&amp;journal=Muscle%20Nerve&amp;volume=53&amp;pages=856-861&amp;publication_year=2016&amp;author=Farhad%2CK&amp;author=Traub%2CR&amp;author=Ruzhansky%2CKM&amp;author=Brannagan%2CTH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"23.\">\n<p class=\"c-article-references__text\" id=\"ref-CR23\">Curr\u00f2 R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, et al. RFC1 expansions are a common cause of idiopathic sensory neuropathy. Brain. 2021;144:1542\u201350.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33969391\" aria-label=\"PubMed reference 23\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8262986\" aria-label=\"PubMed Central reference 23\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 23\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=RFC1%20expansions%20are%20a%20common%20cause%20of%20idiopathic%20sensory%20neuropathy&amp;journal=Brain&amp;volume=144&amp;pages=1542-1550&amp;publication_year=2021&amp;author=Curr%C3%B2%2CR&amp;author=Salvalaggio%2CA&amp;author=Tozza%2CS&amp;author=Gemelli%2CC&amp;author=Dominik%2CN&amp;author=Galassi%20Deforie%2CV\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"24.\">\n<p class=\"c-article-references__text\" id=\"ref-CR24\">Pipis M, Rossor AM, Laura M, Reilly MM. Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 2019;15:644\u201356.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31582811\" aria-label=\"PubMed reference 24\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 24\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Next-generation%20sequencing%20in%20Charcot-Marie-Tooth%20disease%3A%20opportunities%20and%20challenges&amp;journal=Nat%20Rev%20Neurol&amp;volume=15&amp;pages=644-656&amp;publication_year=2019&amp;author=Pipis%2CM&amp;author=Rossor%2CAM&amp;author=Laura%2CM&amp;author=Reilly%2CMM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"25.\">\n<p class=\"c-article-references__text\" id=\"ref-CR25\">Gess B, Jeibmann A, Schirmacher A, Kleffner I, Schilling M, Young P. Report of a novel mutation in the PMP22 gene causing an axonal neuropathy. Muscle Nerve. 2011;43:605\u20139.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=21337347\" aria-label=\"PubMed reference 25\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 25\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Report%20of%20a%20novel%20mutation%20in%20the%20PMP22%20gene%20causing%20an%20axonal%20neuropathy&amp;journal=Muscle%20Nerve&amp;volume=43&amp;pages=605-609&amp;publication_year=2011&amp;author=Gess%2CB&amp;author=Jeibmann%2CA&amp;author=Schirmacher%2CA&amp;author=Kleffner%2CI&amp;author=Schilling%2CM&amp;author=Young%2CP\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"26.\">\n<p class=\"c-article-references__text\" id=\"ref-CR26\">Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, et al. Genetic heterogeneity of motor neuropathies. Neurology. 2017;88:1226\u201334.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2sXkvFWit70%3D\" aria-label=\"CAS reference 26\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=28251916\" aria-label=\"PubMed reference 26\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5373778\" aria-label=\"PubMed Central reference 26\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 26\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genetic%20heterogeneity%20of%20motor%20neuropathies&amp;journal=Neurology&amp;volume=88&amp;pages=1226-1234&amp;publication_year=2017&amp;author=Bansagi%2CB&amp;author=Griffin%2CH&amp;author=Whittaker%2CRG&amp;author=Antoniadi%2CT&amp;author=Evangelista%2CT&amp;author=Miller%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"27.\">\n<p class=\"c-article-references__text\" id=\"ref-CR27\">Lefter S, Hardiman O, Ryan AM. Methodology and design of a national epidemiological study on adult neuromuscular disease. Neuroepidemiology. 2014;43:123\u201330.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=25376451\" aria-label=\"PubMed reference 27\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 27\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Methodology%20and%20design%20of%20a%20national%20epidemiological%20study%20on%20adult%20neuromuscular%20disease&amp;journal=Neuroepidemiology&amp;volume=43&amp;pages=123-130&amp;publication_year=2014&amp;author=Lefter%2CS&amp;author=Hardiman%2CO&amp;author=Ryan%2CAM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"28.\">\n<p class=\"c-article-references__text\" id=\"ref-CR28\">Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, et al. A 20-year clinical and genetic neuromuscular cohort analysis in Lebanon: an international effort. J Neuromuscul Dis. 2022;9:193\u2013210.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34602496\" aria-label=\"PubMed reference 28\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8842757\" aria-label=\"PubMed Central reference 28\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 28\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%2020-year%20clinical%20and%20genetic%20neuromuscular%20cohort%20analysis%20in%20Lebanon%3A%20an%20international%20effort&amp;journal=J%20Neuromuscul%20Dis&amp;volume=9&amp;pages=193-210&amp;publication_year=2022&amp;author=Megarbane%2CA&amp;author=Bizzari%2CS&amp;author=Deepthi%2CA&amp;author=Sabbagh%2CS&amp;author=Mansour%2CH&amp;author=Chouery%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"29.\">\n<p class=\"c-article-references__text\" id=\"ref-CR29\">Thongsing A, Likasitwattanakula S, Netsuwan T, Sanmaneechai O. Pediatric neuromuscular diseases prevalence in Siriraj Hospital, Thailand\u2019s largest tertiary referral hospital. Siriraj Med J. 2020;72:125\u201331.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 29\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Pediatric%20neuromuscular%20diseases%20prevalence%20in%20Siriraj%20Hospital%2C%20Thailand%E2%80%99s%20largest%20tertiary%20referral%20hospital&amp;journal=Siriraj%20Med%20J&amp;volume=72&amp;pages=125-131&amp;publication_year=2020&amp;author=Thongsing%2CA&amp;author=Likasitwattanakula%2CS&amp;author=Netsuwan%2CT&amp;author=Sanmaneechai%2CO\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"30.\">\n<p class=\"c-article-references__text\" id=\"ref-CR30\">Vanherpe P, Fieuws S, D\u2019Hondt A, Bleyenheuft C, Demaerel P, De Bleecker J, et al. Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures. Orphanet J Rare Dis. 2020. <a href=\"https:\/\/doi.org\/10.1186\/s13023-020-01353-4\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1186\/s13023-020-01353-4\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1186\/s13023-020-01353-4<\/a>.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32248831\" aria-label=\"PubMed reference 30\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7133011\" aria-label=\"PubMed Central reference 30\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 30\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Late-onset%20Pompe%20disease%20%28LOPD%29%20in%20Belgium%3A%20clinical%20characteristics%20and%20outcome%20measures&amp;journal=Orphanet%20J%20Rare%20Dis&amp;doi=10.1186%2Fs13023-020-01353-4&amp;publication_year=2020&amp;author=Vanherpe%2CP&amp;author=Fieuws%2CS&amp;author=D%E2%80%99Hondt%2CA&amp;author=Bleyenheuft%2CC&amp;author=Demaerel%2CP&amp;author=Bleecker%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"31.\">\n<p class=\"c-article-references__text\" id=\"ref-CR31\">Markati T, Oskoui M, Farrar MA, Duong T, Goemans N, Servais L. Emerging therapies for Duchenne muscular dystrophy. Lancet Neurol. 2022;21:814\u201329.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XitlartrjM\" aria-label=\"CAS reference 31\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35850122\" aria-label=\"PubMed reference 31\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 31\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Emerging%20therapies%20for%20Duchenne%20muscular%20dystrophy&amp;journal=Lancet%20Neurol&amp;volume=21&amp;pages=814-829&amp;publication_year=2022&amp;author=Markati%2CT&amp;author=Oskoui%2CM&amp;author=Farrar%2CMA&amp;author=Duong%2CT&amp;author=Goemans%2CN&amp;author=Servais%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"32.\">\n<p class=\"c-article-references__text\" id=\"ref-CR32\">Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, et al. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Human Genet. 2020;28:1141\u201359.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 32\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=EMQN%20best%20practice%20guidelines%20for%20genetic%20testing%20in%20dystrophinopathies&amp;journal=Eur%20J%20Human%20Genet.&amp;volume=28&amp;pages=1141-1159&amp;publication_year=2020&amp;author=Fratter%2CC&amp;author=Dalgleish%2CR&amp;author=Allen%2CSK&amp;author=Santos%2CR&amp;author=Abbs%2CS&amp;author=Tuffery-Giraud%2CS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"33.\">\n<p class=\"c-article-references__text\" id=\"ref-CR33\">Giardina E, Cama\u00f1o P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, et al. Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: update of the 2012 guidelines. Clin Genet. 2024;106:13\u201326.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXptlWgs7c%3D\" aria-label=\"CAS reference 33\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38685133\" aria-label=\"PubMed reference 33\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 33\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Best%20practice%20guidelines%20on%20genetic%20diagnostics%20of%20facioscapulohumeral%20muscular%20dystrophy%3A%20update%20of%20the%202012%20guidelines&amp;journal=Clin%20Genet&amp;volume=106&amp;pages=13-26&amp;publication_year=2024&amp;author=Giardina%2CE&amp;author=Cama%C3%B1o%2CP&amp;author=Burton-Jones%2CS&amp;author=Ravenscroft%2CG&amp;author=Henning%2CF&amp;author=Magdinier%2CF\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"34.\">\n<p class=\"c-article-references__text\" id=\"ref-CR34\">Labeit S, Kolmerer B. Titins: giant proteins in charge of muscle ultrastructure and elasticity. Science. 1979;1995(270):293\u20136.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 34\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Titins%3A%20giant%20proteins%20in%20charge%20of%20muscle%20ultrastructure%20and%20elasticity&amp;journal=Science&amp;volume=1995&amp;issue=270&amp;pages=293-296&amp;publication_year=1979&amp;author=Labeit%2CS&amp;author=Kolmerer%2CB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"35.\">\n<p class=\"c-article-references__text\" id=\"ref-CR35\">Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988;53:219\u201328.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DyaL1cXls1Gru7s%3D\" aria-label=\"CAS reference 35\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=3282674\" aria-label=\"PubMed reference 35\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 35\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20complete%20sequence%20of%20dystrophin%20predicts%20a%20rod-shaped%20cytoskeletal%20protein&amp;journal=Cell&amp;volume=53&amp;pages=219-228&amp;publication_year=1988&amp;author=Koenig%2CM&amp;author=Monaco%2CAP&amp;author=Kunkel%2CLM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"36.\">\n<p class=\"c-article-references__text\" id=\"ref-CR36\">Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, et al. Interpreting genetic variants in Titin in patients with muscle disorders. JAMA Neurol. 2018;75(5):557\u201365.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29435569\" aria-label=\"PubMed reference 36\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5885217\" aria-label=\"PubMed Central reference 36\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 36\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Interpreting%20genetic%20variants%20in%20Titin%20in%20patients%20with%20muscle%20disorders&amp;journal=JAMA%20Neurol&amp;volume=75&amp;issue=5&amp;pages=557-565&amp;publication_year=2018&amp;author=Savarese%2CM&amp;author=Maggi%2CL&amp;author=Vihola%2CA&amp;author=Jonson%2CPH&amp;author=Tasca%2CG&amp;author=Ruggiero%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"37.\">\n<p class=\"c-article-references__text\" id=\"ref-CR37\">Bardakov SN, Tsargush VA, Carlier PG, Nikitin SS, Kurbatov SA, Titova AA, et al. Magnetic resonance imaging pattern variability in dysferlinopathy. Acta Myol. 2021;40:158\u201371.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35047756\" aria-label=\"PubMed reference 37\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8744010\" aria-label=\"PubMed Central reference 37\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 37\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Magnetic%20resonance%20imaging%20pattern%20variability%20in%20dysferlinopathy&amp;journal=Acta%20Myol&amp;volume=40&amp;pages=158-171&amp;publication_year=2021&amp;author=Bardakov%2CSN&amp;author=Tsargush%2CVA&amp;author=Carlier%2CPG&amp;author=Nikitin%2CSS&amp;author=Kurbatov%2CSA&amp;author=Titova%2CAA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"38.\">\n<p class=\"c-article-references__text\" id=\"ref-CR38\">Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, et al. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: the Qatari experience. Am J Med Genet A. 2019;179:927\u201335.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXoslSlu7s%3D\" aria-label=\"CAS reference 38\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=30919572\" aria-label=\"PubMed reference 38\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6916397\" aria-label=\"PubMed Central reference 38\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 38\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Clinical%20exome%20sequencing%20in%20509%20Middle%20Eastern%20families%20with%20suspected%20Mendelian%20diseases%3A%20the%20Qatari%20experience&amp;journal=Am%20J%20Med%20Genet%20A&amp;volume=179&amp;pages=927-935&amp;publication_year=2019&amp;author=Al-Dewik%2CN&amp;author=Mohd%2CH&amp;author=Al-Mureikhi%2CM&amp;author=Ali%2CR&amp;author=Al-Mesaifri%2CF&amp;author=Mahmoud%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"39.\">\n<p class=\"c-article-references__text\" id=\"ref-CR39\">Mavraki E, Labrum R, Sergeant K, Alston CL, Woodward C, Smith C, et al. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. Eur J Hum Genet. 2023;31:148\u201363.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XjtFSlsb%2FI\" aria-label=\"CAS reference 39\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36513735\" aria-label=\"PubMed reference 39\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 39\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genetic%20testing%20for%20mitochondrial%20disease%3A%20the%20United%20Kingdom%20best%20practice%20guidelines&amp;journal=Eur%20J%20Hum%20Genet&amp;volume=31&amp;pages=148-163&amp;publication_year=2023&amp;author=Mavraki%2CE&amp;author=Labrum%2CR&amp;author=Sergeant%2CK&amp;author=Alston%2CCL&amp;author=Woodward%2CC&amp;author=Smith%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"40.\">\n<p class=\"c-article-references__text\" id=\"ref-CR40\">Toscano A, Rodolico C, Musumeci O. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Ann Transl Med. 2019;7:284\u2013284.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXhvF2is70%3D\" aria-label=\"CAS reference 40\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31392196\" aria-label=\"PubMed reference 40\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6642938\" aria-label=\"PubMed Central reference 40\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 40\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Multisystem%20late%20onset%20Pompe%20disease%20%28LOPD%29%3A%20an%20update%20on%20clinical%20aspects&amp;journal=Ann%20Transl%20Med&amp;volume=7&amp;pages=284-284&amp;publication_year=2019&amp;author=Toscano%2CA&amp;author=Rodolico%2CC&amp;author=Musumeci%2CO\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"41.\">\n<p class=\"c-article-references__text\" id=\"ref-CR41\">Lace B, Micule I, Kenina V, Setlere S, Strautmanis J, Kazaine I, et al. Overview of neuromuscular disorder molecular diagnostic experience for the population of Latvia. Neurol Genet. 2022;8: e685.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36381256\" aria-label=\"PubMed reference 41\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9641966\" aria-label=\"PubMed Central reference 41\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 41\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Overview%20of%20neuromuscular%20disorder%20molecular%20diagnostic%20experience%20for%20the%20population%20of%20Latvia&amp;journal=Neurol%20Genet.&amp;volume=8&amp;publication_year=2022&amp;author=Lace%2CB&amp;author=Micule%2CI&amp;author=Kenina%2CV&amp;author=Setlere%2CS&amp;author=Strautmanis%2CJ&amp;author=Kazaine%2CI\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"42.\">\n<p class=\"c-article-references__text\" id=\"ref-CR42\">Zerres K, Sch\u00f6neborn SR. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52:518\u201323.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:STN:280:DyaK2M3ltFGktg%3D%3D\" aria-label=\"CAS reference 42\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=7733848\" aria-label=\"PubMed reference 42\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 42\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Natural%20history%20in%20proximal%20spinal%20muscular%20atrophy.%20Clinical%20analysis%20of%20445%20patients%20and%20suggestions%20for%20a%20modification%20of%20existing%20classifications&amp;journal=Arch%20Neurol&amp;volume=52&amp;pages=518-523&amp;publication_year=1995&amp;author=Zerres%2CK&amp;author=Sch%C3%B6neborn%2CSR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"43.\">\n<p class=\"c-article-references__text\" id=\"ref-CR43\">Chi\u00f2 A, Mazzini L, Mora G. Disease-modifying therapies in amyotrophic lateral sclerosis. Neuropharmacology. 2020. <a href=\"https:\/\/doi.org\/10.1016\/j.neuropharm.2020.107986\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1016\/j.neuropharm.2020.107986\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1016\/j.neuropharm.2020.107986<\/a>.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32062193\" aria-label=\"PubMed reference 43\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 43\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Disease-modifying%20therapies%20in%20amyotrophic%20lateral%20sclerosis&amp;journal=Neuropharmacology&amp;doi=10.1016%2Fj.neuropharm.2020.107986&amp;publication_year=2020&amp;author=Chi%C3%B2%2CA&amp;author=Mazzini%2CL&amp;author=Mora%2CG\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"44.\">\n<p class=\"c-article-references__text\" id=\"ref-CR44\">Boemer F, Caberg JH, Dideberg V, Dardenne D, Bours V, Hiligsmann M, et al. Newborn screening for SMA in Southern Belgium. Neuromuscul Disord. 2019;29:343\u20139.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31030938\" aria-label=\"PubMed reference 44\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 44\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Newborn%20screening%20for%20SMA%20in%20Southern%20Belgium&amp;journal=Neuromuscul%20Disord&amp;volume=29&amp;pages=343-349&amp;publication_year=2019&amp;author=Boemer%2CF&amp;author=Caberg%2CJH&amp;author=Dideberg%2CV&amp;author=Dardenne%2CD&amp;author=Bours%2CV&amp;author=Hiligsmann%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"45.\">\n<p class=\"c-article-references__text\" id=\"ref-CR45\">Cairns LM, Rankin J, Hamad A, Cooper N, Merrifield K, Jain V, et al. Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation. J Med Genet. 2022;59:544\u20138.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XhvFems7jK\" aria-label=\"CAS reference 45\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33963046\" aria-label=\"PubMed reference 45\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 45\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genetic%20testing%20in%20motor%20neuron%20disease%20and%20frontotemporal%20dementia%3A%20a%205-year%20multicentre%20evaluation&amp;journal=J%20Med%20Genet&amp;volume=59&amp;pages=544-548&amp;publication_year=2022&amp;author=Cairns%2CLM&amp;author=Rankin%2CJ&amp;author=Hamad%2CA&amp;author=Cooper%2CN&amp;author=Merrifield%2CK&amp;author=Jain%2CV\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"46.\">\n<p class=\"c-article-references__text\" id=\"ref-CR46\">De Oliveira HM, Soma A, Baker MR, Turner MR, Talbot K, Williams TL. A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and republic of Ireland: implications for future planning. Amyotroph Lateral Scler Frontotemporal Degener. 2023;24:405\u201313.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36458618\" aria-label=\"PubMed reference 46\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 46\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20survey%20of%20current%20practice%20in%20genetic%20testing%20in%20amyotrophic%20lateral%20sclerosis%20in%20the%20UK%20and%20republic%20of%20Ireland%3A%20implications%20for%20future%20planning&amp;journal=Amyotroph%20Lateral%20Scler%20Frontotemporal%20Degener&amp;volume=24&amp;pages=405-413&amp;publication_year=2023&amp;author=Oliveira%2CHM&amp;author=Soma%2CA&amp;author=Baker%2CMR&amp;author=Turner%2CMR&amp;author=Talbot%2CK&amp;author=Williams%2CTL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"47.\">\n<p class=\"c-article-references__text\" id=\"ref-CR47\">Wang H, Guan LP, Deng M. Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy. Front Neurosci. 2023;17: 1170996.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37250416\" aria-label=\"PubMed reference 47\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10213321\" aria-label=\"PubMed Central reference 47\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 47\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Recent%20progress%20of%20the%20genetics%20of%20amyotrophic%20lateral%20sclerosis%20and%20challenges%20of%20gene%20therapy&amp;journal=Front%20Neurosci&amp;volume=17&amp;publication_year=2023&amp;author=Wang%2CH&amp;author=Guan%2CLP&amp;author=Deng%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"48.\">\n<p class=\"c-article-references__text\" id=\"ref-CR48\">Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics. 2012;28:2747\u201354.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/ojrd.biomedcentral.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC38XhsFGjsr%2FL\" aria-label=\"CAS reference 48\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=22942019\" aria-label=\"PubMed reference 48\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3476336\" aria-label=\"PubMed Central reference 48\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 48\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20robust%20model%20for%20read%20count%20data%20in%20exome%20sequencing%20experiments%20and%20implications%20for%20copy%20number%20variant%20calling&amp;journal=Bioinformatics&amp;volume=28&amp;pages=2747-2754&amp;publication_year=2012&amp;author=Plagnol%2CV&amp;author=Curtis%2CJ&amp;author=Epstein%2CM&amp;author=Mok%2CKY&amp;author=Stebbings%2CE&amp;author=Grigoriadou%2CS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"49.\">\n<p class=\"c-article-references__text\" id=\"ref-CR49\">Greer SU, Botello J, Hongo D, Levy B, Shah P, Rabinowitz M, et al. Implementation of nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic. J Transl Med. 2023. <a href=\"https:\/\/doi.org\/10.1186\/s12967-023-04243-y\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1186\/s12967-023-04243-y\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1186\/s12967-023-04243-y<\/a>.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37301971\" aria-label=\"PubMed reference 49\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10257846\" aria-label=\"PubMed Central reference 49\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 49\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Implementation%20of%20nanopore%20sequencing%20as%20a%20pragmatic%20workflow%20for%20copy%20number%20variant%20confirmation%20in%20the%20clinic&amp;journal=J%20Transl%20Med&amp;doi=10.1186%2Fs12967-023-04243-y&amp;publication_year=2023&amp;author=Greer%2CSU&amp;author=Botello%2CJ&amp;author=Hongo%2CD&amp;author=Levy%2CB&amp;author=Shah%2CP&amp;author=Rabinowitz%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n","protected":false},"excerpt":{"rendered":"Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012;49:33\u201348. CAS\u00a0 PubMed\u00a0 Google Scholar\u00a0 Carey IM,&hellip;\n","protected":false},"author":3,"featured_media":185470,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[111,104136,834,3736,815,15577,3209,104137,104139,29794,104138,159,67,132,68,79237],"class_list":{"0":"post-185469","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-belgium","9":"tag-diagnostic-guidelines","10":"tag-general","11":"tag-genetic-testing","12":"tag-genetics","13":"tag-human-genetics","14":"tag-medicine-public-health","15":"tag-neuromuscular-disorders","16":"tag-neuromuscular-reference-center","17":"tag-pharmacology-toxicology","18":"tag-prevalence","19":"tag-science","20":"tag-united-states","21":"tag-unitedstates","22":"tag-us","23":"tag-whole-exome-sequencing"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115113933097919152","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/185469","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=185469"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/185469\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/185470"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=185469"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=185469"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=185469"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}