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Article

Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice.

Nature medicine - 1 Feb 2023

Chai Andreas C, Cui Miao, Chemello Francesco, Li Hui, Chen Kenian, Tan Wei, Atmanli Ayhan, McAnally John R, Zhang Yu, Xu Lin, Liu Ning, Bassel-Duby Rhonda, Olson Eric N

Abstract excerpt

The most common form of genetic heart disease is hypertrophic cardiomyopathy (HCM), which is caused by variants in cardiac sarcomeric genes and leads to abnormal heart muscle thickening. Complications of HCM include heart failure, arrhythmia and sudden cardiac death. The dominant-negative c.1208G>A (p.R403Q) pathogenic variant (PV) in β-myosin (MYH7) is a common and well-studied PV that leads to increased cardiac...

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Topics

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Share to Arrhythmias, Cardiac
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myocardium

Share to Myocytes, Cardiac

Source

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Identifiers

PMID: 36797478
DOI: 10.1038/s41591-022-02176-5
PMCID: PMC10053064

Genes

MYH7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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