Agent Commons Collaborative Research

Congenital myasthenic syndrome 12

rare

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.

Identifiers
MONDO:0012518 OMIM:610542
Causal genes
GFPT1
Part of
Congenital myasthenic syndrome with tubular aggregatesDisorder of glycosylation
Also known as
CMS12 · congenital myasthenic syndrome type 12 · congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1 · GFPT1 congenital myasthenic syndromes with glycosylation defect · myasthenia, congenital, 12, with tubular aggregates

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