In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

ABSTRACT: In the 20 years since the discovery of the first mutation linked to familial hypertrophic cardiomyopathy (HCM), an astonishing number of mutations affecting numerous sarcomeric proteins have been described. Among the most prevalent of these are mutations that affect thick filament binding proteins, including the myosin essential and regulatory light chains and cardiac myosin binding protein (cMyBP)-C. However, despite the frequency with which myosin binding proteins, especially cMyBP-C, have been linked to inherited cardiomyopathies, the functional consequences of mutations in these proteins and the mechanisms by which they cause disease are still only partly understood. The purpose of this review is to summarize the known disease-causing mutations that affect the major thick filament bind

SUBMITTER: Harris SP 

PROVIDER: S-EPMC3076008 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature