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Article

Synaptic dysfunction in congenital myasthenic syndromes.

Annals of the New York Academy of Sciences - 1 Dec 2012

Beeson David

Abstract excerpt

Congenital myasthenic syndromes (CMS) are hereditary disorders of neuromuscular transmission characterized by fatigable muscle weakness. The number of cases recognized is increasing with improved diagnosis. To date we have identified over 300 different mutations present in over 350 unrelated kinships. The underlying genetic defects are diverse, involving a series of different genes with a variety of different...

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Source

Identifiers

PMID: 23278579
DOI: 10.1111/nyas.12000

Genes

DOK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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