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Article

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.

Neuron - 1 Jul 1996

Ohno K, Wang H L, Milone M, Bren N, Brengman J M, Nakano S, Quiram P, Pruitt J N, Sine S M, Engel A G

Abstract excerpt

We describe the genetic and kinetic defects for a low-affinity fast channel disease of the acetylcholine receptor (AChR) that causes a myasthenic syndrome. In two unrelated patients with very small miniature end plate (EP) potentials, but with normal EP AChR density and normal EP ultrastructure, patch-clamp studies demonstrated infrequent AChR channel events, diminished channel reopenings during ACh occupancy,...

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Identifiers

PMID: 8755487
DOI: 10.1016/s0896-6273(00)80289-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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