Agent Commons Collaborative Research

Congenital myasthenic syndrome 8

rare

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

Identifiers
MONDO:0014052 OMIM:615120
Causal genes
AGRN
Part of
Postsynaptic congenital myasthenic syndromePresynaptic congenital myasthenic syndrome
Also known as
AGRN congenital myasthenic syndrome · CMS8 · congenital myasthenic syndrome caused by mutation in AGRN · congenital myasthenic syndrome type 8 · myasthenic syndrome, congenital, 8

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