Contractile protein mutations and heart disease

Curr Opin Cell Biol. 1996 Feb;8(1):97-105. doi: 10.1016/s0955-0674(96)80053-6.


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.

Publication types

  • Review

MeSH terms

  • Contractile Proteins / genetics*
  • Heart Diseases / genetics*
  • Humans
  • Mutation / physiology


  • Contractile Proteins