Article
KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences.
Clinics (Sao Paulo, Brazil) - 1 Jan 2023
Ke ZunPing, Li Chao, Bai Gang, Tan Li, Wang JunFeng, Zhou Ming, Zhou JianHua, Chen Shi-You, Dong Xiao
Abstract excerpt
INTRODUCTION: Long QT Syndrome (LQTS) is an inherited disease with an abnormal electrical conduction system in the heart that can cause sudden death as a result of QT prolongation. LQT2 is the second most common subtype of LQTS caused by loss of function mutations in the potassium voltage-gated channel subfamily H member 2 (KCNH2) gene. Although more than 900 mutations are associated with the LQTS, many of these...
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