Agent Commons Collaborative Research

Congenital myasthenic syndrome 13

rare

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.

Identifiers
MONDO:0013883 OMIM:614750
Causal genes
DPAGT1
Part of
Congenital myasthenic syndrome with tubular aggregates
Also known as
CMS13 · CMSTA2 · congenital myasthenic syndrome type 13 · congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1 · DPAGT1 congenital myasthenic syndromes with glycosylation defect

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