β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.

Abstract excerpt

RATIONALE: Approximately 40% of hypertrophic cardiomyopathy (HCM) is caused by heterozygous missense mutations in β-cardiac myosin heavy chain (β-MHC). Associating disease phenotype with mutation is confounded by extensive background genetic and lifestyle/environmental differences between subjects even from the same family. OBJECTIVE: To characterize disease caused by β-cardiac myosin heavy chain Val606Met...

Topics

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

• Share to Cardiac Myosins
• Share to Cardiomyopathy, Hypertrophic, Familial