A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia

被引：50

作者：

Eldar, M ^{[1
]}

Pras, E

Lahat, H

机构：

[1] Chaim Sheba Med Ctr, Inst Heart, IL-52621 Tel Hashomer, Israel

[2] Chaim Sheba Med Ctr, Danek Gartner Inst Human Genet, IL-52621 Tel Hashomer, Israel

来源：

TRENDS IN CARDIOVASCULAR MEDICINE | 2003年 / 13卷 / 04期

关键词：

D O I：

10.1016/S1050-1738(03)00025-2

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Catecholamine-induced polymorphic ventricular tachycardia (CPVT), a rare disease that occurs in subjects without obvious organic heart disease, is characterized by episodes of syncope, seizures, or sudden death in response to physiologic or emotional stress. This report reviews evidence that a missense mutation in the CASQ2 gene is associated with autosomal-recessive CPVT.

引用

页码：148 / 151

页数：4

共 20 条

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