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Article

Congenital myasthenic syndromes: recent advances.

Current opinion in neurology - 1 Oct 2016

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 recent findings that have expanded the phenotypic spectrum and suggested improved treatment strategies. RECENT FINDINGS: The use of next-generation sequencing is...

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Topics

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Share to Glycosylation
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Share to Myasthenic Syndromes, Congenital

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Neuromuscular Junction

Share to Receptors, Cholinergic

Share to Synaptic Transmission

Source

Identifiers

PMID: 27472506
DOI: 10.1097/WCO.0000000000000370

Genes

AGRN
GMPPB
LRP4
MUSK

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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