Duchenne肌营养不良(DMD)为X连锁常见的神经肌肉遗传病之一,由于骨骼肌肌膜上的抗肌萎缩蛋白完全或部分缺失引起。不幸的是,从发现这种疾病以来已经历经大约150年,但是还是不可治愈。然而,20年前DMD基因的发现却大大地改变了这种疾病的发展状况。最近,基因治疗的研究取得了较大的进展。本文就DMD的基因治疗的进展加以综述。 Duchenne muscular dystrophy (DMD) is one of the most common neuromuscular genetic diseases in the X-linked disorder due to the complete or partial loss of dystrophin on the skeletal muscle. Unfortunately, about 150 years have passed since the discovery of the disease, but it remains incurable. However, the discovery of the DMD gene 20 years ago has dramatically altered the development of this disease. Recently, gene therapy research has made great progress. This article reviews the progress of gene therapy in DMD.