Article
Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy.
Circulation. Arrhythmia and electrophysiology - 1 Jun 2008
Ge Junbo, Sun Aijun, Paajanen Vesa, Wang Shijun, Su Chunxi, Yang Zhiyin, Li Ying, Wang Shaochun, Jia Jianguo, Wang Keqiang, Zou Yunzeng, Gao Lizhi, Wang Kun, Fan Zheng
Abstract excerpt
BACKGROUND: Increased susceptibility to dilated cardiomyopathy has been observed in patients carrying mutations in the SCN5A gene, but the underlying mechanism remains unclear. In this study, we identified and characterized, both in vitro and clinically, an SCN5A mutation associated with familial progressive atrioventricular block of adult onset and dilated cardiomyopathy in a Chinese family. METHODS AND RESULTS:...
Topics
- Adult
- Alanine
- Amino Acid Substitution
- Asian People
- Atrioventricular Block
- Base Sequence
- Cardiomyopathy, Dilated
- Cell Line
- Disease Progression
- Electrocardiography