肌营养不良
面肩肱型肌营养不良
强直性营养不良
医学
戴斯弗林
肌肉疾病
肌肉疾病
分子遗传学
肌营养不良蛋白
肌肉活检
肢带型肌营养不良
神经肌肉疾病
疾病
肌肉无力
表型
遗传学
病理
基因
生物
内科学
标识
DOI:10.1016/j.ncl.2013.04.004
摘要
With advances in the genetics of muscle disease, the term, muscular dystrophy, has expanded to include mutations in an increasing large list of genes. This review discusses the genetics, pathophysiology, and potential treatments of the most common forms of muscular dystrophy: Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. Other forms of muscular dystrophy and other genetic muscle disorders are also discussed to provide an overview of this complex clinical problem.
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