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Article

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

Human molecular genetics - 1 Sept 1996

Engel A G, Ohno K, Milone M, Wang H L, Nakano S, Bouzat C, Pruitt J N, Hutchinson D O, Brengman J M, Bren N, Sieb J P, Sine S M

Abstract excerpt

Mutations in genes encoding the epsilon, delta, beta and alpha subunits of the end plate acetylcholine (ACh) receptor (AChR) are described and functionally characterized in three slow-channel congenital myasthenic syndrome patients. All three had prolonged end plate currents and AChR channel opening episodes and an end plate myopathy with loss of AChR from degenerating junctional folds. Genetic analysis revealed...

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Identifiers

PMID: 8872460
DOI: 10.1093/hmg/5.9.1217

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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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