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Carrying both the heterozygous Myh6-R453C and Tnnt2-R92W mutations aggravate the hypertrophic cardiomyopathy phenotype in mice.

Biochemical and biophysical research communications - 12 Nov 2024

Lu Minjie, Li Shuai, Han Ziqiang, Ma Bingxuan, Wang Leqi, Wan Fangfang, Lei Song, Nie Yu, Wang Jizheng

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is an inherited disease of the heart muscle that is dominated by variations in eight genes encoding sarcomere proteins. Although there are clinical or basic research reports that carrying double mutations can lead to more severe HCM phenotypes, there are also research reports that after reanalyzing the reported mutations, the severity of clinical symptoms in patients with double...

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PMID: 39191188
DOI: 10.1016/j.bbrc.2024.150582

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