E0020 Compound heterozygous novel splicing mutation D202sp and missence mutation G272D on KCNQ1 caused Jervel and Lange-Nielsen syndrome in a Chinese family

Abstract

BackgroundLong QT syndrome (LQTS) is an inherited cardiac disorder characterised by QT interval prolongation on ECG, ventricular arrhythmias and sudden death. Two forms have been identified: autosomal dominant Romamo-Ward syndrome...