Missense variants in the myosin binding domains of MYBPC3 and MYBPHL impair sarcomere incorporation
Kelly Araujo, Hannah E. Cizauskas, Yoldas Yildiz, Geena E. Fritzmann, Tuan Bui, Lucas M. Wittenkeller, Alexandra Peña, Toni R. Pak, David Y. Barefield
The paper investigates how missense variants in MYBPC3 and MYBPHL affect sarcomere incorporation by expressing variants in cardiomyocytes and assessing their localization and stoichiometric effects.
bioRxiv · Sep 29, 2025 · PreprintBiochemistry