Article
A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death.
European journal of pediatrics - 1 Sept 2007
Zhang Yanmin, Zhou Nan, Jiang Wenhui, Peng Jun, Wan Hongmei, Huang Chen, Xie Zenghui, Huang Christopher L-H, Grace Andrew A, Ma Aiqun
Abstract excerpt
Long QT syndrome (LQTS) is characterized by abnormalities in cardiac repolarization that lead to prolongation of the electrocardiographic (ECG) QT interval. Mutations in the human ether-a-go-go-related gene (HERG, KCNH2) cause the chromosome 7-linked LQT2 form of congenital LQTS, which is characterized by a prolonged QT interval and a bifid T-wave with an increased susceptibility to life-threatening cardiac...
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