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

Abstract:

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,...

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Publication status:
Published

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Publisher copy:
10.1002/mus.10548

Authors


Bonifati, DM More by this author
Willcox, N More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, Molecular Medicine
Journal:
Muscle and nerve
Volume:
29
Issue:
3
Pages:
436-439
Publication date:
2004-03-05
DOI:
EISSN:
1097-4598
ISSN:
0148-639X
URN:
uuid:ac6fa509-5a1d-4625-82f4-e08056e26690
Source identifiers:
241665
Local pid:
pubs:241665

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