Article
The cardiac sodium channel mutation delQKP 1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Nov 2008
Shi Ruiming, Zhang Yanmin, Yang Chun, Huang Chen, Zhou Xihui, Qiang Hua, Grace Andrew A, Huang Christopher L-H, Ma Aiqun
Abstract excerpt
AIM: We report diverse phenotypic consequences of the delQKP-1507-1509 cardiac sodium channel mutation in three generations of a Chinese family. METHODS AND RESULTS: Clinical and electrocardiographic (ECG), echocardiographic examination was followed by direct sequencing of SCN5A, KCNQ1, HERG, and...
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