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Article

Congenital myasthenic syndromes and the neuromuscular junction.

Current opinion in neurology - 1 Oct 2014

Rodríguez Cruz Pedro M, Palace Jacqueline, Beeson David

Abstract excerpt

PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of neuromuscular transmission. This review updates the reader on the new mutations of known CMS genes, new causative genes and the treatment strategies for these increasingly heterogeneous disorders. It also provides a brief summary of...

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Source

Identifiers

PMID: 25159927
DOI: 10.1097/WCO.0000000000000134

Genes

CHRNA1
DAP

Provenance

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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