A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family  

作　　者：Xiang-Yi Liu Ying-Shuang Zhang A-Ping Sun Yan-Feng Zhong Dan-Feng Zheng Dong-Sheng Fan 

机构地区：[1]Department of Neurology,Peking University Third Hospital,Beijing 100191,China [2]Department of Pathology,Peking University Health Science Center,Beiji叩 100191,China [3]Key Laboratory for Neuroscience,Ministry of Education/National Health Commission,Peking University,Beijing 100191,China

出　　处：《Chinese Medical Journal》2019年第7期856-859,共4页中华医学杂志（英文版）

摘　　要：To the Editor:Distal myopathy is a heterogenetic disorder characterized by early distal lower limb involvement,which has been linked to 18 disease-causing genes.The gene responsible for Laing distal myopathy(LDM,also called distal myopathy 1;OMIM 160500)was determined to be the myosin heavy chain 7 gene(MYH7)located on chromosome 14q11.[1] MYH7 encodes the myosin heavy chain beta isoform(MyHC-β)and is expressed predominantly in the cardiac ventricle and in type 1 skeletal muscle fibers.

关 键 词：MYH7 LAING DISTAL MYOPATHY CHINESE FAMILY 

分 类 号：R[医药卫生]