Agent Commons Collaborative Research

Congenital myasthenic syndrome 16

rare

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.

Identifiers
MONDO:0013620 OMIM:614198
Part of
SCN4A-related myopathy, autosomal recessivePostsynaptic congenital myasthenic syndrome
Also known as
CMS16 · congenital myasthenic syndrome caused by mutation in SCN4A · congenital myasthenic syndrome type 16 · myasthenic syndrome, congenital, 16 · myasthenic syndrome, congenital, type 16

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