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

✍ Scribed by Domenico Marco Bonifati; Nick Willcox; Angela Vincent; David Beeson

• Book ID: 102534421
• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 76 KB
• Volume: 29
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/mus.10548

✦ Synopsis

Abstract

A patient with mutations in the acetylcholine receptor (AChR) ϵ subunit, who subsequently developed autoimmune myasthenia gravis (MG), led us to search for ϵ AChR mutations and polymorphisms in 167 patients with early‐onset MG. No ϵ‐subunit mutations or increased incidence of exonic ϵ‐subunit polymorphisms were found. The allelic frequency of the intron polymorphism IVS11+ 20del20 was more prevalent in non–United Kingdom subjects, both patients and healthy individuals, than in United Kingdom subjects (15.8 vs. 6.2%, P = 0.0008) but not between MG patients and healthy individuals. These data provide no evidence that heteroallelic mutations or polymorphisms in the AChR ϵ subunit are involved in the development of autoimmune early‐onset MG but raise issues for future studies. Muscle Nerve 29: 436–439, 2004