Hypertrophic cardiomyopathy:: Infrequent mutation of the cardiac beta-myosin heavy-chain gene

被引：4

作者：

Mora, Roberto

Merino, Jose L.

Peinado, Rafael

Olias, Fernando

Garcia-Guereta, Luis

del Cerro, Maria J.

Tarin, Maria N.

Molano, Jesus

机构：

[1] Hosp Univ La Paz, Serv Bioquim, Unidad Genet Mol, Madrid 28046, Spain

[2] Hosp Univ La Paz, Serv Cardiol, Unidad Medicoquirurg, Madrid 28046, Spain

[3] Hosp Univ La Paz, Serv Cardiol Infantil, Madrid 28046, Spain

[4] Hosp Gen Mostoles, Serv Cardiol, Madrid, Spain

来源：

REVISTA ESPANOLA DE CARDIOLOGIA | 2006年 / 59卷 / 08期

关键词：

hypertrophy cardiomyopathy; MYH7b gene mutation;

D O I：

10.1157/13091891

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The aim of this study was to identify mutations in the cardiac heavy-chain beta-myosin gene (MYH7b) in a group of Spanish patients with hypertrophic cardiomyopathy. The study included 36 families with at least one member who had hypertrophic cardiomyopathy. DNA from exons 3 to 24 of the MYH7b gene was sequenced. Two mutations were identified: Arg858Cys and Met515Val. They occurred in two families, one of which was of Moroccan origin. This corresponds to a MYH7b gene mutation frequency of less than 5%. In contrast to findings in other Caucasian populations, MYH7b gene mutation occurred infrequently in this group of Spanish families with hypertrophic cardiomyopathy.

引用

页码：846 / 849

页数：4

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