Article
A novel MYBPC3 c.2737+1 (IVS26) G>T mutation responsible for high-risk hypertrophic cardiomyopathy.
Cardiology in the young - 1 Jan 2020
Tong Wuyang, Liu Wei, Guo Hong, Wang Jiang, Yu Shiyong, Zhang Jihang, Liu Chuan, Chen Jia, Zhao Xiaohui
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy is an autosomal dominant hereditary disease characterised by left ventricular asymmetry hypertrophy. However, our knowledge of the genetic background in hypertrophic cardiomyopathy cases is limited. Here, we aimed to evaluate pathogenic gene mutations in a family with high-risk hypertrophic cardiomyopathy and analyse the genotype/phenotype relationships in this family....
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