Article

Thick filament molecular interfaces play a critical role in pathogenesis of hypertrophic and dilated cardiomyopathy

2025-10-04

Abstract excerpt

Hypertrophic (HCM) and dilated (DCM) cardiomyopathy variants in genes encoding the myosin heavy chain ( MYH7 ), myosin light chains ( MYL2 and MYL3 ), and cardiac myosin binding protein-C (cMyBP-C, MYBPC3 ) lead to cardiac hypertrophy or dilatation, with abnormal contractility, relaxation, and energy consumption. Here we defined the structural consequences of >200 pathogenic and benign missense variants in the...

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Literature Corpus work: 382daffa-3305-502e-9e4d-bd3d8af7dbaa
DOI: 10.1101/2025.10.03.680256

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