North KN, Wang CH, Clarke N, et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014;24(2):97-116.
[2]
Wang CH, Dowling JJ, North K, et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol. 2012;27(3):363-382.
[3]
Clarke NF, Waddell LB, Cooper ST, et al. Recessive ACTA1 mutation causes a congenital myopathy with diffuse hypercontractility. J Med Genet. 2019;56(10):665-673.
[4]
Jungbluth H, Sewry CA, Muntoni F. Core myopathies. Semin Pediatr Neurol. 2019;29:51-60.
[5]
Böhm J, Vasli N, Maurer C, et al. Altered splicing of the BIN1 chromosome 2 locus in centronuclear myopathy. Hum Mol Genet. 2019;28(22):3775-3786.
[6]
Lawal TA, Todd JJ, Meilleur KG. Ryanodine receptor 1-related myopathies: Diagnostic and therapeutic approaches. Neurotherapeutics. 2018;15(4):885-899.
[7]
Gonorazky HD, Naumenko S, Ramanathan S, et al. The expanding phenotype of congenital myopathies. J Neuromuscul Dis. 2019;6(2):127-140.
[8]
Feng JJ, Marston S. Genotype-phenotype correlations in nemaline myopathy. J Muscle Res Cell Motil. 2019;40(3-4):277-282.
[9]
Bharucha-Goebel DX, Medne L, Mitchell S, et al. Muscle MRI in congenital myopathies: A retrospective multicentre study. Neuromuscul Disord. 2020;30(10):814-824.
[10]
Ravenscroft G, Laing NG, Böhm J. Preclinical research in congenital myopathies: A systematic review. J Neuromuscul Dis. 2021;8(2):161-172.
[11]
Witting N, Werlauff U, Duno M, et al. Phenotypes and genotypes in congenital myopathies over a 25-year period. Neuromuscul Disord. 2020;30(11):888-898.
[12]
Fardeau M, Tomé FM, Ollivier L, et al. Congenital myopathies: Historical aspects and classification. Handb Clin Neurol. 2019;168:239-262.
[13]
Schnabel F, Schara U, von der Hagen M. Therapeutic approaches for congenital myopathies. Curr Opin Neurol. 2019;32(5):755-762.
[14]
Khan A, Wang R, Punetha J, et al. Targeted sequencing of congenital myopathy genes. Neuromuscul Disord. 2020;30(11):899-908.
[15]
Maggi L, Scoto M, Cirak S, et al. Congenital myopathies: Clinical features and diagnostic approach. Eur J Paediatr Neurol. 2019;23(6):801-814.