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Article

CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family.

The journal of gene medicine - 1 Jan 2022

Huang Hao, Chen Yaqin, Jin Jieyuan, Du Ran, Tang Ke, Fan Liangliang, Xiang Rong

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a hereditary disease manifested by a thickened ventricular wall. Cysteine and glycine-rich protein 3 (CSRP3), the gene encoding muscle LIM protein, is important for initiating hypertrophic gene expression. The mutation of CSRP3 causes dilated cardiomyopathy or HCM. METHODS: In the present study, we enrolled a Chinese family with HCM across three generations....

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PMID: 34558151
DOI: 10.1002/jgm.3390

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