SCN4A-related myopathy, autosomal recessive
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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0019952
congenital myopathy
is_a
SCN4A-related myopathy, autosomal recessive
exact
congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis
exact
congenital myopathy with severe fetal hypokinesia
exact
congenital myopathy with severe foetal hypokinesia
exact
myopathy with ptosis and mild dystrophic pattern
exact