Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy  

作　　者：Bing-Qing Zhang Nuo Si Dong-Fang Liu 

机构地区：[1]Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China [2]MeKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China [3]Division of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China

出　　处：《Chinese Medical Journal》2015年第16期2269-2270,共2页中华医学杂志（英文版）

摘　　要：To the Editor：The human four and a half LIM domain 1 （FHL1） gene,located on Xq26.3,encodes for a protein with only LIM domains.LIM domains,named after their initial discovery in the proteins Lin11,Isl-1,and Mec-3,are cysteine-rich protein motifs composed of two contiguous zinc finger domains separated by a two-amino acid residue hydrophobic linker.To the Editor：The human four and a half LIM domain 1 （FHL1） gene,located on Xq26.3,encodes for a protein with only LIM domains.LIM domains,named after their initial discovery in the proteins Lin11,Isl-1,and Mec-3,are cysteine-rich protein motifs composed of two contiguous zinc finger domains separated by a two-amino acid residue hydrophobic linker.

关 键 词：LIM结构域 肥厚性心肌病 骨骼肌 鉴定 肥大 男性 中国 突变 

分 类 号：Q51[生物学—生物化学] S858.286.2[农业科学—临床兽医学]