Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review

Gong, X; Yu, PY; Wu, T; He, YR; Zhou, KY; Hua, YM; Lin, S; Wang, T; Huang, H; Li, YF

Huang, H (通讯作者),Sichuan Univ, West China Hosp, Dept Echocardiog, 37 Guoxue Alley, Chengdu 610041, Peoples R China.;Wang, T; Li, YF (通讯作者),Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20,3rd Sect,South Renmin Rd, Chengdu, Peoples R China.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (7):

Abstract

Background: PRKAG2 cardiac syndrome is a rare autosomal dominant genetic disorder caused by a PRKAG2 gene variant. There are several major adverse car......

Full Text Link