Article
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.
Human mutation - 1 Nov 2006
Awad Mark M, Dalal Darshan, Tichnell Crystal, James Cynthia, Tucker April, Abraham Theodore, Spevak Philip J, Calkins Hugh, Judge Daniel P
Abstract excerpt
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...
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