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duchenne ji ying yang bu liang (dmd) fa bing ji zhi ji zhi liao yan jiu jin zhan
Author(s): 
Pages: 354-361
Year: Issue:  4
Journal: Chinese Bulletin of Life Sciences

Keyword:  Duchenne muscular dystrophypathogenesistherapydystrophin;
Abstract: Duchenne肌营养不良(Duchenne muscular dystrophy,DMD)为X连锁、隐性、致死性遗传病,其致病基因位于X染色体的Xp21.1-3区,编码抗肌萎缩蛋白dystrophin。随着对该病研究的不断深入,人们从宏观到微观对DMD的再认识不断更新,发现其发病涉及到从基因、胞膜缺陷,到细胞的炎性机制,以及纤维化及肌细胞再生等多个层面。就其细胞及亚细胞水平发病机制及治疗上的进展进行综述。
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