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Review
. 2014 Feb;466(2):201-6.
doi: 10.1007/s00424-013-1400-3. Epub 2013 Nov 17.

Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships

Vasco Sequeira  1 , E Rosalie Witjas-Paalberends, Diederik W D Kuster, Jolanda van der Velden
Affiliations
Review

Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships

Vasco Sequeira et al. Pflugers Arch. 2014 Feb.

Abstract

Cardiac myosin-binding protein C (cMyBP-C) research has been characterized by two waves. Initial interest was piqued by its discovery in 1973 as a contaminant of myosin preparations from skeletal muscle. The second wave started in 1995 by the discovery that mutations in the gene encoding cMyBP-C cause hypertrophic cardiomyopathy (HCM). In this review, we will address what is known of cMyBP-C's role as a regulator of contraction as well as its role in HCM.

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