Article

Missense variants in the myosin binding domains of <i>MYBPC3</i> and <i>MYBPHL</i> impair sarcomere incorporation

2025-10-01

Abstract excerpt

Approximately 40% of genetic hypertrophic cardiomyopathy cases involve mutations in MYBPC3 , which encodes cardiac myosin binding protein-C (cMyBP-C), a key regulator of sarcomere contractility. The atrial-specific paralog, myosin binding protein-H like (MyBP-HL), has been associated with dilated cardiomyopathy in humans and mice. Both proteins bind to the same binding sites in the thick filament C-zone. In the a...

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Literature Corpus work: 211b770e-f391-57bf-b12e-7c98a9f3f9e5
DOI: 10.1101/2025.09.29.679322

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