Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.

@article{WitjasPaalberends2013MutationsIM,
  title={Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.},
  author={E. Rosalie Witjas-Paalberends and Nicoletta Piroddi and Kelly Stam and Sabine J. van Dijk and Vasco Sequeira Oliviera and Claudia Ferrara and Beatrice Scellini and M Klein Hazebroek and Folkert J. ten Cate and Marjon A van Slegtenhorst and Cristobal G Dos Remedios and Hans W. M. Niessen and Chiara Tesi and Ger J M Stienen and Stephane Heymans and Michelle Michels and Corrado Poggesi and Jolanda van der Velden},
  journal={Cardiovascular research},
  year={2013},
  volume={99 3},
  pages={432-41}
}
AIMS Familial hypertrophic cardiomyopathy (HCM), frequently caused by sarcomeric gene mutations, is characterized by cellular dysfunction and asymmetric left-ventricular (LV) hypertrophy. We studied whether cellular dysfunction is due to an intrinsic sarcomere defect or cardiomyocyte remodelling. METHODS AND RESULTS Cardiac samples from 43 sarcomere mutation-positive patients (HCMmut: mutations in thick (MYBPC3, MYH7) and thin (TPM1, TNNI3, TNNT2) myofilament genes) were compared with 14… CONTINUE READING

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