Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene  

作　　者：Yan Chen Shiwei Yang Jun Li Gannan Wang Yuming Qin Daowu Wang Kejiang Cao 

机构地区：[1]Department of Emergency,the First Affiliated Hospital,Nanjing Medical University [2]Department of Cardiology,the First Affiliated Hospital,Nanjing Medical University [3]Department of Cardiology,Nanjing Children's Hospital,Nanjing Medical University

出　　处：《The Journal of Biomedical Research》2014年第1期59-63,共5页生物医学研究杂志（英文版）

基　　金：funded by the Natural Science Foundation of China (No.81000076);the Youth Education Program to Shi-wei YANG supported by Nanjing Health Bureau

摘　　要：Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candi- date gene approach and identified a missense mutation in the cardiac troponin I gene in a 12-year-old Chinese girl with restrictive cardiomyopathy. This study indicates that mutation in sarcomere protein genes may play an im- portant role in idiopathic pediatric restrictive cardiomyopathy.Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candi- date gene approach and identified a missense mutation in the cardiac troponin I gene in a 12-year-old Chinese girl with restrictive cardiomyopathy. This study indicates that mutation in sarcomere protein genes may play an im- portant role in idiopathic pediatric restrictive cardiomyopathy.

关 键 词：CARDIOMYOPATHY RESTRICTIVE sarcomere protein gene troponin I 

分 类 号：R725.4[医药卫生—儿科]