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Article

Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis.

Muscle & nerve - 1 Mar 2004

Bonifati Domenico Marco, Willcox Nick, Vincent Angela, Beeson David

Abstract excerpt

A patient with mutations in the acetylcholine receptor (AChR) epsilon subunit, who subsequently developed autoimmune myasthenia gravis (MG), led us to search for epsilon AChR mutations and polymorphisms in 167 patients with early-onset MG. No epsilon-subunit mutations or increased incidence of exonic epsilon-subunit polymorphisms were found. The allelic frequency of the intron polymorphism IVS11+ 20del20 was more...

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Identifiers

PMID: 14981744
DOI: 10.1002/mus.10548

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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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