Duchenne and Becker Muscular Dystrophies
Duchenne and Becker Muscular Dystrophies
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DOI：
10.1016/j.ncl.2014.05.002
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发表时间：
2014-08-01
影响因子：
2.4
通讯作者：
Flanigan, Kevin M.
中科院分区：
文献类型：
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作者：
Flanigan, Kevin M.
肌营养不良症Duchenne和Becker肌营养不良症（DMD和BMD）代表了最常见的肌肉遗传性疾病。心脏护理的改善，对呼吸功能的关注，以及脊柱矫正手术的明智使用，导致DMD人群的生存率增加。与此同时，分子治疗学的进步已经导致有希望的治疗方法正在进行或正在进入临床试验。对肌营养不良蛋白病的了解，以及其分子诊断和治疗的最新进展，对执业神经科医生有益。
The dystrophinopathies Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most common inherited disorders of muscle. Improvements in cardiac care, attention to respiratory function, and judicious use of spinal correction surgery have led to increased survival in the DMD population. Meanwhile, advances in molecular therapeutics have led to promising therapies that are in or are entering clinical trials. An understanding of the dystrophinopathies, and recent advances in their molecular diagnosis and treatment, is of benefit to practicing neurologists.