Article
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation.
Annals of human genetics - 1 Jul 2017
Soveizi Mahdieh, Rabbani Bahareh, Rezaei Yousef, Saedi Sedigheh, Najafi Nasim, Maleki Majid, Mahdieh Nejat
Abstract excerpt
The arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic disease frequently associated with desmosomal mutations, mainly attributed to dominant mutations in the Plakophilin-2 (PKP2) gene. Naxos and Carvajal are the syndromic forms of ARVD/C due to recessive mutations. Herein, we report an autosomal recessive form of nonsyndromic ARVD/C caused by a mutation in the PKP2 gene. After...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.