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Updated: Mar 6, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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人口和家庭数据支持TNNT2 p.Arg288Cys作为高性心肌病变体中介效应变体

Talitha C F Spanjersberg1, Fahima Hassanzada2, Jan D H Jongbloed3

  • 1Division Heart & Lungs, Department of Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

International journal of cardiology
|March 4, 2026
PubMed
概括

与多变性心肌病 (HCM) 相关的TNNT2 p.Arg288Cys变体显示了相互矛盾的分类. 这项研究表明,它是一种调节HCM风险的中间效应变体,而不是一种绝对致病的变体.

关键词:
过度缩性心肌病变性是一种心肌疾病.人口遗传学 人口遗传学这就是TNNT2的意思.

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