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Article

Congenital myasthenic syndromes: an update.

Current opinion in neurology - 1 Oct 2013

Hantaï Daniel, Nicole Sophie, Eymard Bruno

Abstract excerpt

PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMSs) form a heterogeneous group of genetic diseases characterized by a dysfunction of neuromuscular transmission because of mutations in numerous genes. This review will focus on the causative genes recently identified and on the therapy of CMSs. RECENT FINDINGS: Advances in exome sequencing allowed the discovery of a new group of genes that did not code for...

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Identifiers

PMID: 23995276
DOI: 10.1097/WCO.0b013e328364dc0f

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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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