Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency
Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency
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DOI：
10.1016/j.nmd.2006.01.005
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发表时间：
2006-03-01
影响因子：
2.8
通讯作者：
Vilardell-Tarres, M
中科院分区：
文献类型：
--
作者：
Selva-O'Callaghan, A;Labrador-Horrillo, M;Vilardell-Tarres, M
特发性炎性肌病是一组获得性、异质性、全身性疾病，通常被认为是自身免疫性疾病。鉴别诊断包括肌营养不良症，特别是dysferlin缺乏性肌病。我们报告一例患者诊断为多发性肌炎和相关的自身免疫性疾病，最终被证明是一个dysferlin缺乏症（肢带型肌营养不良症2B型）。一个可能的联系dysferlin缺乏自身免疫性进行了讨论。(C)2006 Elsevier B.V.保留所有权利。
Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially the dysferlin-deficiency myopathy. We report a case of a patient diagnosed with polymyositis and with associated autoimmune diseases that finally turned out to be a dysferlin deficiency (limb girdle muscular dystrophy type 2B). A possible link between dysferlin deficiency an autoimmunity is discussed. (C) 2006 Elsevier B.V. All rights reserved.