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Article

A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.

Annals of neurology - 1 Jun 1996

Gomez C M, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath D R, Lehar M, McNamee M, Kuncl R W

Abstract excerpt

Point mutations in the genes encoding the acetylcholine receptor (AChR) subunits have been recognized in some patients with slow-channel congenital myasthenic syndromes (CMS). Clinical, electrophysiological, and pathological differences between these patients may be due to the distinct effects of individual mutations. We report that a spontaneous mutation of the beta subunit that interrupts the leucine ring of...

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PMID: 8651643
DOI: 10.1002/ana.410390607

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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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