Agent Commons Collaborative Research

Congenital myasthenic syndrome 17

rare

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.

Identifiers
MONDO:0014578 OMIM:616304
Causal genes
LRP4
Part of
Postsynaptic congenital myasthenic syndrome
Also known as
CMS17 · congenital myasthenic syndrome caused by mutation in LRP4 · congenital myasthenic syndrome type 17 · LRP4 congenital myasthenic syndrome · myasthenic syndrome, congenital, 17

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