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Article

Hypertrophic cardiomyopathy associated Lys104Glu mutation in the myosin regulatory light chain causes diastolic disturbance in mice.

Journal of molecular and cellular cardiology - 1 Sept 2014

Huang Wenrui, Liang Jingsheng, Kazmierczak Katarzyna, Muthu Priya, Duggal Divya, Farman Gerrie P, Sorensen Lars, Pozios Iraklis, Abraham Theodore P, Moore Jeffrey R, Borejdo Julian, Szczesna-Cordary Danuta

Abstract excerpt

We have examined, for the first time, the effects of the familial hypertrophic cardiomyopathy (HCM)-associated Lys104Glu mutation in the myosin regulatory light chain (RLC). Transgenic mice expressing the Lys104Glu substitution (Tg-MUT) were generated and the results were compared to Tg-WT (wild-type human ventricular RLC) mice. Echocardiography with pulse wave Doppler in 6month-old Tg-MUT showed early signs of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24992035
DOI: 10.1016/j.yjmcc.2014.06.011
PMCID: PMC4115013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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