Juvenile cardiomyopathy with dystrophin deficiency  

作　　者：Yuhui Luo Qinglan Shu Yi Wang Min Gu Hao Zhang Siqi Hong Rui Wang Lixue Yin 

机构地区：[1]Department of Cardiology,Chongqing General Hospital,Chongqing 401147,China [2]Department of Cardiovascular Ultrasound and Noninvasive Cardiology,Sichuan Provincial People's Hospital,University of Electronic Science and Technology of China(UESTC),Chengdu,Sichuan 610072,China Department of Radiology,Chongqing General Hospital,Chongqing 401147,China [3]Department of Neurology,Children's Hospital of Chongqing Medical University,Chongqing 400014,China [4]School of Medicine,Zunyi Medical University,Zunyi,Guizhou 563000,China

出　　处：《Genes & Diseases》2024年第3期30-33,共4页基因与疾病（英文）

基　　金：funded by the Science Health Joint Medical Scientific Research Project of Chongqing,China(No.2019GDRC016);the Medical Research Foundation of Chongqing General Hospital(Chongqing,China)(No.Y2019MSXM02).

摘　　要：Pseudohypertrophic muscular dystrophy is a lethal X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene.This gene encodes a cytoskeletal protein that is extensively expressed in muscle cells and that enables the strength,stability,and functionality of myofibers.Muscular dystrophy can be grouped into two different categories based on the mutational rate and clinical severity,Duchenne muscular dystrophy(DMD)and Becker muscular dystrophy(BMD).DMD is the most common and the more severe type of dystrophy.DMD patients usually become wheelchair-bound by the age of 12 years and die in their late teens to early twenties.^(1)In contrast,BMD is relatively less severe and the patients can potentially have alonger lifeexpectancy.

关 键 词：DYSTROPHIN DYSTROPHY Becker 

分 类 号：R542.2[医药卫生—心血管疾病]