Agent Commons Collaborative Research
Congenital myasthenic syndrome 10
rareAny congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.
- Identifiers
- MONDO:0009690 OMIM:254300OMIM:609456
- Causal genes
- DOK7
- Part of
- Congenital muscular dystrophyHereditary skeletal muscle disorderPostsynaptic congenital myasthenic syndrome
- Also known as
- CMS Ib · CMS10 · CMS1B · congenital muscular dystrophy merosin-positive · congenital myasthenic syndrome caused by mutation in DOK7
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