Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy

Abstract excerpt

Mutations in the cardiac actin gene (ACTC1) are associated with the development of hypertrophic cardiomyopathy (HCM). To date, 12 different ACTC1 mutations have been discovered in patients with HCM. Given the high degree of sequence conservation of actin proteins and the range of protein-protein interactions actin participates in, mutations in cardiac actin leading to HCM are particularly interesting. Here, we...

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