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Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy Redwood CS; Moolman-Smook JC; Watkins HCardiovasc Res 1999[Oct]; 44 (1): 20-36Hypertrophic 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 beta-myosin heavy chain, both regulatory and essential myosin light chains, myosin binding protein-C, cardiac troponin T, cardiac troponin I and alpha-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.|*Mutation[MESH]|Cardiomyopathy, Hypertrophic/*genetics/metabolism[MESH]|Carrier Proteins/genetics[MESH]|Contractile Proteins/*genetics/metabolism[MESH]|Humans[MESH]|Myosin Heavy Chains/genetics/metabolism[MESH]|Myosin Light Chains/genetics/metabolism[MESH]|Sarcomeres/*genetics/metabolism[MESH]|Tropomyosin/genetics/metabolism[MESH]|Troponin I/genetics/metabolism[MESH]|Troponin T/genetics/metabolism[MESH] |
