RGD Reference Report - Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. - Rat Genome Database

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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

Authors: Gerull, B  Heuser, A  Wichter, T  Paul, M  Basson, CT  McDermott, DA  Lerman, BB  Markowitz, SM  Ellinor, PT  MacRae, CA  Peters, S  Grossmann, KS  Drenckhahn, J  Michely, B  Sasse-Klaassen, S  Birchmeier, W  Dietz, R  Breithardt, G  Schulze-Bahr, E  Thierfelder, L 
Citation: Gerull B, etal., Nat Genet. 2004 Nov;36(11):1162-4. Epub 2004 Oct 17.
RGD ID: 1580873
Pubmed: PMID:15489853   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1461   (Journal Full-text)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  

Objects Annotated

Genes (Rattus norvegicus)
Pkp2  (plakophilin 2)

Genes (Mus musculus)
Pkp2  (plakophilin 2)

Genes (Homo sapiens)
PKP2  (plakophilin 2)


Additional Information