Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood

被引：16
|
作者：
Kaski, Juan Pablo [1 ,2 ]
Burch, Michael [1 ,2 ]
Elliott, Perry M. [1 ,2 ]
机构：
[1] Great Ormond St Hosp Sick Children, Inherited Cardiovasc Dis Unit, London WC1N 3JH, England
[2] UCL, Heart Hosp, London, England
来源：
CARDIOLOGY IN THE YOUNG | 2007年 / 17卷 / 06期
关键词：
paediatrics; heart failure; sarcomere protein gene;
D O I：
10.1017/S1047951107001291
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The role of familial disease in childhood dilated cardiomyopathy is unknown. A novel mutation in the cardiac Troponin C gene has been identified recently in a family with dilated cardiomyopathy. Here we present a subsequent case of dilated cardiomyopathy occurring in a child from the same family, and emphasise the implications for future screening and counselling.
引用
收藏
页码：675 / 677
页数：3
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