Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular car...
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
About this item
Full title
Author / Creator
Gerull, Brenda , Heuser, Arnd , Wichter, Thomas , Paul, Matthias , Basson, Craig T , McDermott, Deborah A , Lerman, Bruce B , Markowitz, Steve M , Ellinor, Patrick T , MacRae, Calum A , Peters, Stefan , Grossmann, Katja S , Michely, Beate , Sasse-Klaassen, Sabine , Birchmeier, Walter , Dietz, Rainer , Breithardt, Günter , Schulze-Bahr, Eric and Thierfelder, Ludwig
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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 card...
Alternative Titles
Full title
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
Authors, Artists and Contributors
Author / Creator
Heuser, Arnd
Wichter, Thomas
Paul, Matthias
Basson, Craig T
McDermott, Deborah A
Lerman, Bruce B
Markowitz, Steve M
Ellinor, Patrick T
MacRae, Calum A
Peters, Stefan
Grossmann, Katja S
Michely, Beate
Sasse-Klaassen, Sabine
Birchmeier, Walter
Dietz, Rainer
Breithardt, Günter
Schulze-Bahr, Eric
Thierfelder, Ludwig
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_67019934
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67019934
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng1461
