SCN4A-related myopathy, autosomal recessive

MedGen UID:: 977810
•Concept ID:: CN294783
•: Disease or Syndrome

Synonyms:	congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis; congenital myopathy with severe fetal hypokinesia; congenital myopathy with severe foetal hypokinesia; myopathy with ptosis and mild dystrophic pattern

Monarch Initiative:	MONDO:0100121

Definition

Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy. [from MONDO]

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