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

Autor:	Calum A. MacRae, Beate Michely, Katja S. Grossmann, Thomas Wichter, Craig T. Basson, Matthias Paul, Deborah A. McDermott, Walter Birchmeier, Günter Breithardt, Stefan Peters, Rainer Dietz, Bruce B. Lerman, Patrick T. Ellinor, Ludwig Thierfelder, Eric Schulze-Bahr, Sabine Sasse-Klaassen, Arnd Heuser, Brenda Gerull, Steve M Markowitz
Rok vydání:	2004
Předmět:	Male medicine.medical_specialty Adolescent Molecular Sequence Data Desmoglein-2 Plakoglobin Sudden death Right ventricular cardiomyopathy Sudden cardiac death Internal medicine Genetics medicine Humans Arrhythmogenic Right Ventricular Dysplasia DSC2 biology Desmoplakin Proteins Desmosomes medicine.disease Arrhythmogenic right ventricular dysplasia Endocrinology Mutation cardiovascular system biology.protein Cardiology Female Plakophilins
Zdroj:	Nature genetics. 36(11)
ISSN:	1061-4036
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3997dfdb3c4e2ee77b5387e9db096785 https://pubmed.ncbi.nlm.nih.gov/15489853 Zobrazit plný text záznamu Plný text ve formátu PDF