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Article

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

The Lancet. Neurology - 1 Apr 2015

Engel Andrew G, Shen Xin-Ming, Selcen Duygu, Sine Steven M

Abstract excerpt

The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at the motor endplate, a special synaptic contact between motor axons and each skeletal muscle fibre. Most CMS stem from molecular defects in the muscle nicotinic acetylcholine receptor, but they can also be caused by mutations in presynaptic proteins, mutations in proteins associated with the...

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Identifiers

PMID: 25792100
DOI: 10.1016/S1474-4422(14)70201-7
PMCID: PMC4520251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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