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Article

Inherited disorders of the neuromuscular junction: an update.

Journal of neurology - 1 Nov 2014

Rodríguez Cruz Pedro M, Palace Jacqueline, Beeson David

Abstract excerpt

Congenital myasthenic syndromes (CMSs) are a group of heterogeneous inherited disorders caused by mutations in genes affecting the function and structure of the neuromuscular junction. This review updates the reader on established and novel subtypes of congenital myasthenia, and the treatment strategies for these increasingly heterogeneous disorders. The discovery of mutations associated with the N-glycosylation...

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Source

Identifiers

PMID: 25305004
DOI: 10.1007/s00415-014-7520-7

Genes

AGRN
CHRNA1
DAP
LRP4

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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