Sex-dependent and muscle-specific progression of the MYBPC1 E248K Myotrem myopathy in response to aging.

ABSTRACT: Dominant missense mutations in MYBPC1, the gene encoding the essential sarcomeric slow Myosin Binding Protein-C (sMyBP-C), are associated with Myotrem, a new, early-onset congenital myopathy characterized by muscle weakness, hypotonia, skeletal deformities, and myogenic tremor. Importantly, the clinical manifestation of Myotrem in mid- and late adulthood is unknown. Using the Myotrem MYBPC1 E248K-knock-in (E248K-KI) murine model, we interrogated contractile performance of soleus, gastrocnemius, and tibalis anterior (TA) muscles in both male and female mice in mid- (12 months) and late (24 months) adulthood. Our findings show that the phenotypic manifestation of E248K Myotrem differs across muscle type, sex, and age. While KI soleus muscle consistently exhibited contractile impairment acros

SUBMITTER: Mariano JM 

PROVIDER: S-EPMC12341543 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature