Journal article icon

Journal article

Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.

Abstract:

BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is a hereditary cardiac condition associated with ventricular arrhythmias, heart failure, and sudden death. The disease is most often caused by mutations in the desmosomal gene for plakophilin-2 (PKP2), which is expressed in both myocardial and epidermal tissue. This study aimed to investigate protein expression in myocardial tissue of patients with AC carrying PKP2 mutations and elucidate whether keratinocytes of the same individuals exhibited a...

Expand abstract
Publication status:
Published

Actions


Access Document


Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine, BHF Centre of Research Excellence
Role:
Author
Expand authors...
Publisher:
Lippincott Williams and Wilkins
Journal:
Circulation. Cardiovascular genetics
Volume:
7
Issue:
3
Pages:
230-240
Publication date:
2014-06-05
DOI:
EISSN:
1942-3268
ISSN:
1942-325X
URN:
uuid:6c86b0f2-170e-419d-9379-e048935811ec
Source identifiers:
462362
Local pid:
pubs:462362

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP