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Congenital myopathy

Definition:

The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital myopathies are mainly defined by the predominant histopathological features which include nemaline rods, central cores, multiple minicores, central nuclei, and selective hypotrophy of type 1 fibres. Based on these features, individual congenital myopathies such as nemaline myopathy, central core disease, multi-minicore disease, centronuclear myopathy, and congenital fiber type disproportion were reported. Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies.

References:

[1]. Alison G Compton, et al. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008 Dec;83(6):714-24. [Content Brief]

[2]. Chih-Chuan Wang, et al. βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. Am J Hum Genet. 2018 Jun 7;102(6):1158-1168. [Content Brief]

[3]. Christopher M Watson, et al. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. J Med Genet. 2016 Apr;53(4):264-9. [Content Brief]

[4]. Gianina Ravenscroft, et al. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. [Content Brief]

[5]. Kathryn N North, et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014 Feb;24(2):97-116. [Content Brief]

[6]. L Maggi, et al. Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013 Mar;23(3):195-205. [Content Brief]

[7]. María Cristina Estañ, et al. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019 Feb 15;10(1):797. [Content Brief]

[8]. René G Feichtinger, et al. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 Nov;21(11):2521-2531. [Content Brief]

[9]. Vandana Shashi, et al. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019 Aug;40(8):1115-1126. [Content Brief]

[10]. Xavière Lornage, et al. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol. 2019 Mar;137(3):501-519. [Content Brief]

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