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Publication : Contractile protein mutations and heart disease.

First Author  Vikstrom KL Year  1996
Journal  Curr Opin Cell Biol Volume  8
Issue  1 Pages  97-105
PubMed ID  8791411 Mgi Jnum  J:37356
Mgi Id  MGI:84757 Doi  10.1016/s0955-0674(96)80053-6
Citation  Vikstrom KL, et al. (1996) Contractile protein mutations and heart disease. Curr Opin Cell Biol 8(1):97-105
abstractText  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.
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