Article
Mechanisms of pathogenicity in the hypertrophic cardiomyopathy-associated TNNI3 c.235C > T variant.
International journal of cardiology - 15 Jan 2025
Zhang Lai, Ding Fengzhi, Ren Zhongyuan, Cheng Weili, Dai He, Liang Qing, Kong Fanling, Xu Wenjing, Wang Minghui, Zhang Yuqing, Tao Qin
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is typically manifested as a hereditary disorder, with 30 %-60 % of cases linked to cardiac sarcomere gene mutations. Despite numerous identified TNNI3 mutations associated with HCM, their severity, prevalence, and disease progression vary. The link between TNNI3 variants and phenotypes remains largely unexplored. This study aims to elucidate the impact of the TNNI3...
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