Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene

被引：12

作者：

Theopistou, A ^{[1
]}

Anastasakis, A ^{[1
]}

Miliou, A ^{[1
]}

Rigopoulos, A ^{[1
]}

Toutouzas, P ^{[1
]}

Stefanadis, C ^{[1
]}

机构：

[1] Univ Athens, Hippokration Hosp, Dept Cardiol, Athens, Greece

来源：

AMERICAN JOURNAL OF CARDIOLOGY | 2004年 / 94卷 / 02期

关键词：

D O I：

10.1016/j.amjcard.2004.03.077

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

To further examine the genetic and clinical features of hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T (cTnT) gene, we screened 143 probands from our hypertrophic cardiomyopathy population for mutations in this gene. We report that the Arg278Cys missense mutation in the cTnT gene had a different clinical presentation in 2 different families and was associated with a clinical profile that deviates from what is currently expected for cTnT gene mutations. (C) 2004 by Excerpto Medica, Inc.

引用

页码：246 / 249

页数：4

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