Article
Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C.
European biophysics journal : EBJ - 1 Sept 2002
Brown Louise J, Singh Leena, Sale Kenneth L, Yu Bing, Trent Ronald, Fajer Peter G, Hambly Brett D
Abstract excerpt
Familial hypertrophic cardiomyopathy is an autosomal dominant genetic disorder caused by mutations in cardiac sarcomeric proteins. One such mutation is a six amino acid duplication of residues 1248-1253 in the C-terminal immunoglobulin domain of cardiac myosin binding protein-C, referred to as Motif X. Motif X binds the myosin rod and titin. Here we investigate the structural and functional alteration in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
