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Journal article

Genetics of and pathogenic mechanisms in arrhythmogenic right ventricular cardiomyopathy

Abstract:

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease, associated with a high risk of sudden cardiac death. ARVC has been termed a ‘disease of the desmosome’ based on the fact that in many cases, it is caused by mutations in genes encoding desmosomal proteins at the specialised intercellular junctions between cardiomyocytes, the intercalated discs. Desmosomes maintain the structural integrity of the ventricular myocardium and are also implicated in signal transd...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1007/s12551-018-0437-0

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; RDM Cardiovascular Medicine
Role:
Author
ORCID:
0000-0003-4019-1844
Publisher:
Springer Berlin Heidelberg Publisher's website
Journal:
Biophysical Reviews Journal website
Volume:
10
Issue:
4
Pages:
973–982
Publication date:
2018-07-11
Acceptance date:
2018-06-28
DOI:
EISSN:
1867-2469
ISSN:
1867-2450
Pubs id:
pubs:891096
URN:
uri:7c95c11e-07c5-475a-853b-84fdf1993ab3
UUID:
uuid:7c95c11e-07c5-475a-853b-84fdf1993ab3
Local pid:
pubs:891096

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