Davies K E
Department of Biochemistry, University of Oxford, UK.
Neuromuscul Disord. 1997 Dec;7(8):482-6. doi: 10.1016/s0960-8966(97)00107-7.
The last seven years has witnessed an explosion in our understanding of the muscular dystrophies. In the early 1980s, prenatal diagnosis of Duchenne muscular dystrophy was developed. The cloning of the gene, in 1996, resulted in a better understanding of the disease process and led to the identification of a novel complex at the membrane. This information led to the cloning of other genes responsible for the autosomally inherited dystrophies. As we approach the millenium, the challenge is shifting to the development of therapy of these diseases. This review, in honour of Professor Alan Emery, explains how these advances have an impact in the clinical management of patients and head the promise the progress holds for the future.
过去七年见证了我们对肌肉萎缩症认识的激增。20世纪80年代初，杜氏肌营养不良症的产前诊断得以发展。1996年该基因的克隆，使人们对疾病过程有了更好的理解，并导致在细胞膜上发现了一种新的复合物。这些信息促使了其他导致常染色体显性遗传肌营养不良症的基因的克隆。随着我们迈向千禧年，挑战正转向这些疾病治疗方法的开发。这篇纪念艾伦·埃默里教授的综述，解释了这些进展如何影响患者的临床管理，以及展望了这一进展为未来带来的希望。
