Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Autosomal recessive disease · Congenital myopathy
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.
-
Congenital myasthenic syndrome 16 0 trials