面肩肱骨肌营养不良:分子信号通路

E. Klimov
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引用次数: 1

摘要

面肩肱骨肌营养不良症(FSHD)是成人中第三大最常见的肌病,总发病率超过1:2000(来源:Orphanet)。它属于进行性肌肉营养不良症,其特征是肌肉纤维坏死和变性,导致进行性肌肉无力和萎缩。虚弱通常进展非常缓慢,使FSHD患者能够适应和补偿肌肉缺陷,至少在功能水平上是这样。
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Facioscapulohumeral Muscular Dystrophy: The Molecular Signaling Pathway
Submit Manuscript | http://medcraveonline.com Facioscapulohumeral muscular dystrophy (FSHD) is the third most common myopathy found in adults, with an overall incidence of more than 1:20000 (source: Orphanet). It is classified among progressive muscular dystrophies, characterized by muscular fiber necrosis and degeneration giving rise to progressive muscular weakness and atrophy. Weakness usually progresses very slowly, allowing FSHD patients to adapt and compensate muscular deficiencies, at least at the functional level [1].
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