期刊
NEUROMUSCULAR DISORDERS
卷 22, 期 2, 页码 122-128出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2011.06.751
关键词
Myasthenia gravis; Antibodies; Muscular dystrophy; Inflammation; Immunity
We report two patients with facioscapulohumeral muscular dystrophy (FSHD) presenting with atypical clinical features. Both were found to have antibodies to acetylcholine receptor (AChR-abs) and improved with immunosuppression. AChR-abs have also been reported in patients with other genetic myopathies and it is unlikely that the association is coincidental. There is increasing evidence that muscle fibre degeneration can cause innate immune responses (autoinflammation) that may lead to the breaking of immune tolerance and the generation of autoantibodies to muscle proteins. We compare and contrast this process with the pathogenesis of archetypical myasthenia gravis. (c) 2011 Elsevier B.V. All rights reserved.
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