Contractile protein mutations and heart disease.
Mutations in several muscle structural proteins (the myosin heavy chain, alpha tropomyosin, cardiac troponin T and myosin binding protein C) result in a genetically dominant heart disease, hypertrophic cardiomyopathy. Biochemical data from studies of mutant myosin suggest a dominant-negative mechanism for inheritance of this disease. The most likely primary defect is sarcomere dysfunction, which is followed by the major clinical symptoms.
Vikstrom
K L
KL
Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder 80309-0347, USA. vikstrom@stripe.colorado.edu
Leinwand
L A
LA
D003285:Contractile Proteins / Q000235:genetics*; D006331:Heart Diseases / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000502:physiology
D003285:Contractile Proteins