Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.

Abstract excerpt

To date, more than 230 disease-causing mutations have been linked to the slow/cardiac muscle myosin gene, beta-MyHC (MYH7). Most of these mutations are located in the globular head region of the protein and result in cardiomyopathies. Recently, however, a number of novel disease-causing mutations have been described in the long, alpha-helical, coiled coil tail region of the beta-MyHC protein. Mutations in this...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Actin Cytoskeleton
• Share to Calorimetry, Differential Scanning