Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.

@article{Awad2006RecessiveAR,
  title={Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.},
  author={Mark M Awad and Darshan Dalal and Crystal Tichnell and Cynthia H. James and April N Tucker and Theodore P. Abraham and Philip J. Spevak and Hugh Calkins and Daniel P Judge},
  journal={Human mutation},
  year={2006},
  volume={27 11},
  pages={1157}
}
Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic disorder resulting in fibro-fatty replacement of right ventricular myocytes and consequent ventricular arrhythmias. Heterozygous mutations in PKP2 encoding plakophilin-2 have previously been reported to cause dominant ARVD with reduced penetrance. We report the first case of recessive ARVD caused by mutations in PKP2. Candidate gene analysis in a typical proband with this disorder identified a novel homozygous mutation in PKP2 (c… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 40 extracted citations

Arrhythmogenic cardiomyopathy

Orphanet journal of rare diseases • 2016
View 1 Excerpt

Similar Papers

Loading similar papers…