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. |