Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

@article{Tintelen2006Plakophilin2MA,
  title={Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.},
  author={J Peter van Tintelen and Mark M. Entius and Zahurul A Bhuiyan and Roselie J. E. Jongbloed and Ans C. P. Wiesfeld and Arthur A. M. Wilde and Jasper J. van der Smagt and Ludolf G Boven and Marcel M. A. M. Mannens and Irene Marijke Van Langen and Robert M. W. Hofstra and Luuk C Otterspoor and Pieter A. F. M. Doevendans and L Rodr{\'i}guez and Isabelle Van Gelder and Richard N. W. Hauer},
  journal={Circulation},
  year={2006},
  volume={113 13},
  pages={1650-8}
}
BACKGROUND Mutations in the plakophilin-2 gene (PKP2) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC). Hence, genetic screening can potentially be a valuable tool in the diagnostic workup of patients with ARVC. METHODS AND RESULTS To establish the prevalence and character of PKP2 mutations and to study potential differences in the associated phenotype, we evaluated 96 index patients, including 56 who fulfilled the published task force criteria… CONTINUE READING
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