Journal
ANNALS OF NEUROLOGY
Volume 59, Issue 2, Pages 404-407Publisher
WILEY-LISS
DOI: 10.1002/ana.20751
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Objective: Our objective was to investigate a role of the intracellular tyrosine phosphatase PTPN22*R620W variant in autoimmune myasthenia gravis (MG), considering disease heterogeneity. Methods: We used a case-control design, comparing 470 patients and 296 controls, all French whites. Patients were categorized depending on the presence of a thymoma and serum anti-titin antibodies. Results: The 620W risk allele was increased in 293 nonthymoma patients without anti-titin antibodies (odds ratio, 1.97; 95% confidence interval, 1.32-2-97, p = 0.00059) but not in nonthymoma patients with anti-titin antibodies or in thymoma patients. Interpretation: Our genetic findings strengthen the concept that these groups of patients correspond to etiologically distinct disease entities.
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