Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

@article{Erdmann2001SpectrumOC,
  title={Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.},
  author={Jeanette Erdmann and Joseph M Raible and J Maki-Abadi and Michael Hummel and Joanna Hammann and Bernd Wollnik and Eckart Frantz and Eckart Fleck and Roland Hetzer and Vera Regitz-Zagrosek},
  journal={Journal of the American College of Cardiology},
  year={2001},
  volume={38 2},
  pages={322-30}
}
OBJECTIVES We studied the clinical and genetic features of hypertrophic cardiomyopathy (HCM) caused by mutations in the myosin-binding protein C gene (MYBPC3) in 110 consecutive, unrelated patients and family members of European descent. BACKGROUND Mutations in the MYBPC3 gene represent the cause of HCM in approximately 15% of familial cases. MYBPC3 mutations were reported to include mainly nonsense versus missense mutations and to be characterized by a delayed onset and benign clinical… CONTINUE READING
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