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Article

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].

Revue neurologique - 1 Feb 2004

Andreux F, Hantaï D, Eymard B

Abstract excerpt

Congenital Myasthenic Syndromes (CMS) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. The twenty five past Years saw major advances in identifying different types of CMS due to abnormal presynaptic, synaptic, and postsynaptic proteins. CMS diagnosis requires two steps: 1) positive diagnosis supported by myasthenic signs beginning in neonatal period, efficacy...

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Identifiers

PMID: 15034473
DOI: 10.1016/s0035-3787(04)70887-5

Genes

DAP

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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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