Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells.

@article{Kirschner2005HypertrophicCB,
  title={Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells.},
  author={S. Kirschner and Edgar Becker and Massimo Antognozzi and H. P. Kubis and Antonio Francino and Francisco Navarro-L{\'o}pez and Nana Bit-Avragim and Andreas Perrot and Mirsaid M. Mirrakhimov and Karl-Josef Osterziel and William J. McKenna and Bernhard Brenner and Theresia Kraft},
  journal={American journal of physiology. Heart and circulatory physiology},
  year={2005},
  volume={288 3},
  pages={
          H1242-51
        }
}
Disease-causing mutations in cardiac myosin heavy chain (beta-MHC) are identified in about one-third of families with hypertrophic cardiomyopathy (HCM). The effect of myosin mutations on calcium sensitivity of the myofilaments, however, is largely unknown. Because normal and mutant cardiac MHC are also expressed in slow-twitch skeletal muscle, which is more easily accessible and less subject to the adaptive responses seen in myocardium, we compared the calcium sensitivity (pCa(50)) and the… CONTINUE READING

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