• Morales PN, Coons AN, Koopman AJ, Patel S, Chase PB, Parvatiyar MS, et al. Post-translational modifications of vertebrate striated muscle myosin heavy chains. Cytoskeleton. 2024;81:832–42.

    PubMed 

    Google Scholar
     

  • Xu WM, Gorman PA, Rider SH, Hedge PJ, Moore G, Prichard C, et al. Construction of a genetic map of human chromosome 17 by use of chromosome-mediated gene transfer. Proc Natl Acad Sci USA. 1988;85:8563–7.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Martinsson T, Darin N, Kyllerman M, Oldfors A, Hallberg B, Wahlström J. Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. Am J Hum Genet. 1999;64:1420–6.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Findlay AR, Harms MB, Pestronk A, Weihl CC. Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy. Neuromuscul Disord. 2018;28:675–9.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Cabrera-Serrano M, Fabian VA, Boutilier J, Wise C, Faiz F, Lamont PJ, et al. Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2. Clin Genet. 2015;88:573–8.

    PubMed 

    Google Scholar
     

  • Baskar D, Vengalil S, Nashi S, Bardhan M, Srivastava K, Sanka SB, et al. MYH2-related myopathy: expanding the clinical spectrum of chronic progressive external ophthalmoplegia (CPEO). J Neuromuscul Dis. 2023;10:727–30.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Telese R, Pagliarani S, Lerario A, Ciscato P, Fagiolari G, Cassandrini D, et al. MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form. Mol Genet Genom Med. 2020;8:e1320.


    Google Scholar
     

  • Sonne A, Peverelli L, Hernandez-Lain A, Domínguez-González C, Andersen JL, Milone M, et al. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations. Am J Physiol Cell Physiol. 2023;324:C769–C76.

    PubMed 

    Google Scholar
     

  • Tajsharghi H, Thornell LE, Darin N, Martinsson T, Kyllerman M, Wahlström J, et al. Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. Neurology. 2002;58:780–6.

    PubMed 

    Google Scholar
     

  • Tajsharghi H, Darin N, Rekabdar E, Kyllerman M, Wahlström J, Martinsson T, et al. Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2). Eur J Hum Genet. 2005;13:617–22.

    PubMed 

    Google Scholar
     

  • Lossos A, Baala L, Soffer D, Averbuch-Heller L, Dotan S, Munnich A, et al. A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. Brain. 2005;128:42–51.

    PubMed 

    Google Scholar
     

  • Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B. Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. Brain. 2010;133:1451–9.

    PubMed 

    Google Scholar
     

  • D’Amico A, Fattori F, Bellacchio E, Catteruccia M, Servidei S, Bertini E. A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies. Neuromuscul Disord. 2013;23:437–40.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Hernández-Laín A, Esteban-Pérez J, Montenegro DC, Domínguez-González C. Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2. Muscle Nerve 2017;55:E8–E10.

  • Chen N, Shen N, Yu Y, Chen C, Li X, Liang J, et al. Clinical remission of myopathy with MYH2 deficiency after precision medicine-developed rehabilitation: a case report. Am J Transl Res. 2018;10:3827–32.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Argov Z. Neuromuscular disorders in Israel: a model country for ethnic clusters. Neuromuscul Disord. 2019;29:269–73.

    PubMed 

    Google Scholar
     

  • Madigan NN, Polzin MJ, Cui G, Liewluck T, Alsharabati MH, Klein CJ, et al. Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype. Acta Neuropathol Commun. 2021;9:79.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Hedberg-Oldfors C, Elíasdóttir Ó, Geijer M, Lindberg C, Oldfors A. Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2. BMC Neurol. 2022;22:428.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Carrington G, Hau A, Kosta S, Dugdale HF, Muntoni F, D’Amico A, et al. Human skeletal myopathy myosin mutations disrupt myosin head sequestration. JCI Insight 2023;8:e172322.

  • Cassini TA, Malicdan MCV, Macnamara EF, Lehky T, Horkayne-Szakaly I, Huang Y, et al. MYH2-associated myopathy caused by a novel splice-site variant. Neuromuscul Disord. 2023;33:257–62.

    PubMed 

    Google Scholar
     

  • Oh SJ, Danon MJ. Nonprogressive congenital neuromuscular disease with uniform type 1 fiber. Arch Neurol. 1983;40:147–50.

    PubMed 

    Google Scholar
     

  • Pellegrini G, Barbieri S, Moggio M, Cheldi A, Scarlato G, Minetti C. A case of congenital neuromuscular disease with uniform type I fibers, abnormal mitochondrial network and jagged Z-line. Neuropediatrics. 1985;16:162–6.

    PubMed 

    Google Scholar
     

  • Takeda S, Horigome K, Nakadai A, Oguchi K, Yanagisawa N. A case of nemaline myopathy with uniform type I fiber and unique hybrid pattern of myosin light chains. Rinsho Shinkeigaku. 1986;26:119–27.

    PubMed 

    Google Scholar
     

  • Jong YJ, Huang SC, Liu GC, Chiang CH. Mental retardation in congenital nonprogressive myopathy with uniform type 1 fibers. Brain Dev. 1991;13:444–6.

    PubMed 

    Google Scholar
     

  • Araki A, Kurokawa T, Sakuragawa N, Nonaka I. Congenital neuromuscular disease with uniform type 1 fibers : a case report. No Hattatsu. 1991;23:295–8.


    Google Scholar
     

  • Jung EY, Hattori H, Higuchi Y, Mitsuyoshi I, Kanda T. Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers. Pediatr Neurol. 1997;16:56–8.

    PubMed 

    Google Scholar
     

  • Tojo M, Ozawa M, Nonaka I. Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family. Brain Dev. 2000;22:262–4.

    PubMed 

    Google Scholar
     

  • Sewry CA, Müller C, Davis M, Dwyer JSM, Dove J, Evans G, et al. The spectrum of pathology in central core disease. Neuromuscul Disord. 2002;12:930–8.

    PubMed 

    Google Scholar
     

  • Na S-J, Kang S-W, Lee K-O, Lee K-Y, Kim T-S, Choi Y-C. A case of congenital neuromuscular disease with uniform type 1 fiber. Yonsei Med J. 2004;45:150–2.

    PubMed 

    Google Scholar
     

  • Rakocevic-Stojanovic V, Lavrnic D, Nestorovic B, Dozic S, Cvetkovic D. Congenital myopathy with uniform type 1 fibers. Acta Myol. 2005;24:162–3.

    PubMed 

    Google Scholar
     

  • Sakamoto HM, Yoshioka M, Tsuji M, Kuroki S, Higuchi Y, Nonaka I, et al. A case of congenital neuromuscular disease with uniform type 1 fibers. Brain Dev. 2006;28:202–5.

    PubMed 

    Google Scholar
     

  • Sato I, Wu S, Ibarra MCA, Hayashi YK, Fujita H, Tojo M, et al. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology. 2008;70:114–22.

    PubMed 

    Google Scholar
     

  • Okutani R, Arashi D, Tsujii K. Anesthetic case in a child with congenital neuromuscular disease with uniform type 1 fibers (CNMDU1). J Anesth. 2010;24:797–800.

    PubMed 

    Google Scholar
     

  • Haraki T, Yasuda T, Mukaida K, Migita T, Hamada H, Kawamoto M. Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1). Anesth Analg. 2011;113:1461–7.

    PubMed 

    Google Scholar
     

  • Imagama S, Kawakami N, Tsuji T, Ohara T, Ishiguro N. Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers. Eur Spine J. 2012;21:S499–S504.

    PubMed 

    Google Scholar
     

  • Sanmaneechai O, Likasitwattanakul S, Sangruchi T, Nishino I. Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber. Brain Dev. 2015;37:459–62.

    PubMed 

    Google Scholar