Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

@article{Yu1998MolecularPO,
  title={Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.},
  author={Bing Yu and Julie A French and Lucie Carrier and Richmond W. Jeremy and Donald R McTaggart and Michael R Nicholson and Brett D. Hambly and Christopher Semsarian and David R. Richmond and Ketty Schwartz and Ronald J. A. Trent},
  journal={Journal of medical genetics},
  year={1998},
  volume={35 3},
  pages={205-10}
}
DNA studies in familial hypertrophic cardiomyopathy (FHC) have shown that it is caused by mutations in genes coding for proteins which make up the muscle sarcomere. The majority of mutations in the FHC genes result from missense changes, although one of the most recent genes to be identified (cardiac myosin binding protein C gene, MYBPC3) has predominantly DNA mutations which produce truncated proteins. Both dominant negative and haploinsufficiency models have been proposed to explain the… CONTINUE READING

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