Congenital Myopathy 23

Alternative Names

  • CMYO23
  • Nemaline Myopathy 4
  • NEM4
  • Cap Myopathy 2
  • CAPM2

Associated Genes

Tropomyosin 2
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

609285

Mode of Inheritance

Autosomal dominant

Gene Map Locus

9p13.3

Description

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
609285.1Saudi ArabiaFemaleNoNo Neonatal hypotoniaNM_003289.4:c.121G>AHeterozygousAutosomal, DominantMonies et al. 2017
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