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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...

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Publication status:
Published

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
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Publisher:
Lippincott Williams and Wilkins
Journal:
Circulation. Cardiovascular genetics
Volume:
7
Issue:
3
Pages:
230-240
Publication date:
2014-06-01
DOI:
EISSN:
1942-3268
ISSN:
1942-325X
Source identifiers:
462362
Language:
English
Keywords:
Pubs id:
pubs:462362
UUID:
uuid:6c86b0f2-170e-419d-9379-e048935811ec
Local pid:
pubs:462362
Deposit date:
2014-08-16

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