Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

@article{Mogensen2004FrequencyAC,
  title={Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.},
  author={Jens Mogensen and Ross R T Murphy and Toru Kubo and Ajay Bahl and James C. Moon and Ib Christian Klausen and Perry M Elliott and William J. McKenna},
  journal={Journal of the American College of Cardiology},
  year={2004},
  volume={44 12},
  pages={2315-25}
}
OBJECTIVES The aim of this study was to evaluate the potential utility of genetic diagnosis in clinical management of families with hypertrophic cardiomyopathy (HCM) caused by mutations in the gene for cardiac troponin I (TNNI3). BACKGROUND Knowledge about the clinical disease expression of sarcomeric gene mutations in HCM has predominantly been obtained by investigations of single individuals (probands) or selected families. To establish the role of genetic diagnosis in HCM families… CONTINUE READING

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Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

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