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Article

What have we learned from the congenital myasthenic syndromes.

Journal of molecular neuroscience : MN - 1 Jan 2010

Engel Andrew G, Shen Xin-Ming, Selcen Duygu, Sine Steven M

Abstract excerpt

The congenital myasthenic syndromes have now been traced to an array of molecular targets at the neuromuscular junction encoded by no fewer than 11 disease genes. The disease genes were identified by the candidate gene approach, using clues derived from clinical, electrophysiological, cytochemical, and ultrastructural features. For example, electrophysiologic studies in patients suffering from sudden episodes of...

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Identifiers

PMID: 19688192
DOI: 10.1007/s12031-009-9229-0
PMCID: PMC3050586

Genes

COLQ
ACHE
CHAT

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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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