Journal article
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome
Abstract
OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS).
BACKGROUND: SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias and sudden cardiac death (SCD).
Authors
Hu D; Li Y; Zhang J; Pfeiffer R; Gollob MH; Healey J; Harrell DT; Makita N; Abe H; Sun Y
Journal
JACC Clinical Electrophysiology, Vol. 3, No. 7, pp. 727–743
Publisher
Elsevier
Publication Date
July 2017
DOI
10.1016/j.jacep.2016.11.013
ISSN
2405-500X