Department of Neurology, UCLA Medical Center, 300 Medical Plaza, Suite B-200, Los Angeles, CA 90095, USA.
Neurol Clin. 2013 Nov;31(4):1009-29. doi: 10.1016/j.ncl.2013.04.004.
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.
随着肌肉疾病遗传学的进步,“肌肉营养不良症”这一术语已经扩展到包括越来越多基因的突变。本综述讨论了最常见的肌肉营养不良症的遗传学、病理生理学和潜在治疗方法:杜氏肌营养不良症、贝克肌营养不良症、面肩肱型肌营养不良症和强直性肌营养不良症。还讨论了其他形式的肌肉营养不良症和其他遗传性肌肉疾病,以提供对这一复杂临床问题的概述。