© 1999 by European Society of Cardiology
Copyright © 1999, European Society of Cardiology
Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy
aDepartment of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
bMRC/US Centre for Molecular and Cellular Biology, University of Stellenbosch Medical School, Tygerberg, South Africa
* Corresponding author. Tel.: +44-1856-22-0257; fax: +44-1865-76-8844 hugh.watkins{at}cardiov.ox.ac.uk
Hypertrophic cardiomyopathy (HCM) is one of the most frequently occurring inherited cardiac disorders, affecting up to 1 in 500 of the population. Molecular genetic analysis has shown that HCM is a disease of the sarcomere, caused by mutations in certain contractile protein genes. To date seven disease-associated genes have been identified, those encoding β-myosin heavy chain, both regulatory and essential myosin light chains, myosin binding protein-C, cardiac troponin T, cardiac troponin I and 
-tropomyosin. Here we review the analyses of how these mutations affect the in vitro contractile protein function and the hypotheses derived to explain the development of the disease state.
KEYWORDS Contractile proteins; Heart muscle; Cardiomyopathy; Hypertrophy; Mutation
1 These authors contributed equally to this work.
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