The giant sarcomere protein titin is important in both heart health and disease. Mutations in the gene encoding for titin (TTN) are the leading known cause of familial dilated cardiomyopathy. The ...

Background Despite advances in our understanding of the genetic causes of hypertrophic cardiomyopathy (HCM), a large portion of this patient population do not carry sarcomere gene mutations when ...

Heterozygous mutations in sarcomere genes in hypertrophic cardiomyopathy (HCM) are proposed to exert their effect through gain of function for missense mutations or loss of function for truncating ...

1 Department of Physiology and Biophysics, School of Medicine, Case Western Reserve University, Cleveland, OH, United States 2 Department of Cellular & Molecular Medicine, University of Arizona, ...

1 Department of Biochemistry, Stanford University School of Medicine, Stanford, CA, United States 2 Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, ...