Duchenne muscular dystrophy (DMD)

杜氏肌营养不良症

英文解释

Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle.

中文解释

杜氏肌营养不良症 (DMD) 是一种 X 连锁遗传性神经肌肉疾病，由肌营养不良蛋白基因突变引起。它的特点是进行性肌肉无力和消瘦，由于营养不良蛋白的缺乏，导致骨骼肌和心肌变性。

参考文献

[1]. Falzarano MS, et al. Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Molecules. 2015 Oct 7;20(10):18168-84.