Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

Mutations in the MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), are a frequent cause of familial hypertrophic cardiomyopathy. In the present study, we investigated whether protein composition and function of the sarcomere are altered in a homogeneous familial hypertrophic cardiomyopathy patient group with frameshift mutations in MYBPC3 (MYBPC3(mut)).Comparisons were made between cardiac samples from MYBPC3 mutant carriers...