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.

Also known as: SCN4A-related myopathy, autosomal recessive, 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

4 clinical trials for this condition and its sub-types, 0 tagged with SCN4A-related myopathy, autosomal recessive itself.