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Article

The LMNA p.R541C mutation causes dilated cardiomyopathy in human and mice.

International journal of cardiology - 15 Sept 2022

Yang Luzi, Sun Jinhuan, Chen Zhan, Liu Lei, Sun Yueshen, Lin Junsen, Hu Xiaomin, Zhao Mingming, Ma Yuanwu, Lu Dan, Li Yifei, Guo Yuxuan, Dong Erdan

Abstract excerpt

Dilated cardiomyopathy (DCM) is a major cause of heart failure. LMNA variants contribute to 6-10% DCM cases, but the underlying mechanisms remain incompletely understood. Here, we reported two patients carrying the LMNA c.1621C > T/ p.R541C variant and generated a knock-in mouse model (LmnaRC) to study the role of this variant in DCM pathogenesis. We found LmnaRC/RC mice exhibited ventricular dilation and reduced...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35714719
DOI: 10.1016/j.ijcard.2022.06.038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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