Congenital myasthenic syndrome 16

MONDO:0013620

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

Also known as: CMS16, SCN4A congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in SCN4A, congenital myasthenic syndrome type 16, myasthenic syndrome, congenital, type 16, myasthenic syndrome, congenital, 16, myasthenic syndrome, congenital, Acetazolamide-responsive

4 clinical trials for this condition and its sub-types, 0 tagged with Congenital myasthenic syndrome 16 itself.

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↑ Postsynaptic congenital myasthenic syndrome (3) ↑ SCN4A-related myopathy, autosomal recessive (0)

Including sub-types (4) Tagged with Congenital myasthenic syndrome 16 (0)

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