SCN4A-related myopathy, autosomal recessive

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.

Also known as 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, SCN4A-related myopathy, autosomal recessive — per MONDO