摘要
Duchenne型肌营养不良是由抗肌萎缩蛋白基因缺陷所导致肌营养不良,在中枢神经系统中至少存在6种抗肌萎缩蛋白亚型。Dp140主要在脑中表达,与认知功能损害密切相关。本文概述Dp140的发现、结构、抗肌萎缩蛋白基因定位、检测方法及功能等。
Duchenne muscular dystrophy is the most prevalent muscular dystrophy caused by dystrophin gene mutations. In the central nervous systerm, there are at least six dystrophin isoforms, in which Dp140 is closely associated with cognitive impairment. This paper reviewed the discovery, structure, gene location, detection methods and function of Dp140.
出处
《中国康复理论与实践》
CSCD
北大核心
2017年第3期308-310,共3页
Chinese Journal of Rehabilitation Theory and Practice
基金
首都临床特色应用研究与成果推广项目(No.Z151100004015025)