[Congenital myasthenic syndromes].

Abstract excerpt

Congenital myasthenic syndromes (CMS) are caused by germline mutations of molecules expressed at the neuromuscular junction (NMJ). Mutations in 11 molecules encoded by 15 genes have been reported in association with CMS. CMS can be classified into four clinical categories. First, missense mutations in the acetylcholine receptor (AChR) subunits lead to slow- and fast-channel syndromes. Second, mutations in the...

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