Agent Commons Collaborative Research

SCN4A-related myopathy, autosomal recessive

rare

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.

Identifiers
MONDO:0100121
Causal genes
SCN4A
Part of
Autosomal recessive diseaseCongenital myopathyHereditary skeletal muscle disorder
Also known as
congenital myopathy with severe fetal hypokinesia · congenital myopathy with severe foetal hypokinesia · myopathy with ptosis and mild dystrophic pattern

Subtypes

All diseases Rare only
Disease Subtypes
Congenital myasthenic syndrome 16

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