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Article

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Current neurology and neuroscience reports - 1 Jan 2002

Ohno Kinji, Engel Andrew G

Abstract excerpt

Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic, and postsynaptic proteins. The presynaptic CMS are associated with defects that curtail the evoked release of acetylcholine (ACh) quanta or the resynthesis of ACh. Insufficient resynthesis of ACh is now known to be caused by mutations that reduce the expression, catalytic efficiency, or both of choline acetyltransferase. The...

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Identifiers

PMID: 11898587
DOI: 10.1007/s11910-002-0057-7

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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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