Article

Beta-Adrenergic Stimulation and <i>MYH7</i> G256E Mutant Gene Dosage Drive Hypertrophic Cardiomyopathy Phenotype Penetrance

2026-06-06

Abstract excerpt

<h4>Aims</h4> Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic heart disorder, characterized by significant phenotypic variability even among individuals with identical MYH7 mutations. This study aims to elucidate factors contributing to this variability and identify drivers of phenotype penetrance. We compared the baseline phenotypes of a highly penetrant MYH7 H251N mutation and the variably pen...

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Literature Corpus work: a31896e3-53e4-5645-875a-3ff0b5d71e33
DOI: 10.64898/2026.06.02.729411

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