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Article

Heterozygous MYH7 R403Q mutation impairs left atrial mitochondrial function in a Yucatan mini-pig model of genetic nonobstructive hypertrophic cardiomyopathy.

Journal of applied physiology (Bethesda, Md. : 1985) - 1 Jul 2025

Krause Alexa A, Kelty Taylor J, Meers Grace M, Russell Alan J, Evanchik Marc J, Barthel Ben, Emter Craig A, Rector R Scott

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) can be caused by a MYH7 R403Q gene mutation, which drives pathological cardiac remodeling and may ultimately lead to heart failure. Here, we sought to examine the effects of this mutation on cardiac mitochondrial function in a Yucatan mini-pig model of genetic HCM. Activity of key mitochondrial enzymes, citrate synthase and β-hydroxyacyl-CoA dehydrogenase, was significantly...

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Identifiers

PMID: 40588362
DOI: 10.1152/japplphysiol.00339.2025
PMCID: PMC12366647

Genes

MYH7

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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