Article
A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report.
Medicine - 21 Aug 2020
Gao Guangyuan, Liu Guohui, Chen Weiwei, Tong Yaliang, Mao Cuiying, Liu Jinsha, Zhang Xing, He Max M, Yang Ping
Abstract excerpt
RATIONALE: Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease and a common cause of sudden cardiac death, heart failure, atrial fibrillation and stroke. In families affected by HCM, genotyping is useful for identifying susceptible relatives. In the present study, we investigated the disease-causing mutations in a three-generation Chinese family with HCM using whole exome sequencing (WES)....
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