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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 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 epsilon subunit are involved in the development of autoimmune early-onset MG but raise issues for future studies.

Original publication

DOI

10.1002/mus.10548

Type

Journal article

Journal

Muscle Nerve

Publication Date

03/2004

Volume

29

Pages

436 - 439

Keywords

Adult, Age of Onset, DNA Mutational Analysis, Female, Gene Frequency, Genetic Testing, Humans, India, Introns, Male, Mutation, Myasthenia Gravis, Neuromuscular Junction, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Protein Subunits, Receptors, Cholinergic, United Kingdom