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Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

Abstract:

Background: Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.

We screened 54 ARVC probands for mutations in desmocollin-2 (DSC2), the only desmocollin isoform expressed in cardiac tissue.

Methods: Mutation screening was performed by dena...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1186/1471-2350-8-65

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Publisher:
BioMed Central
Journal:
BMC Medical Genetics More from this journal
Volume:
8
Article number:
65
Publication date:
2007-10-26
Acceptance date:
2007-10-26
DOI:
EISSN:
1471-2350
Language:
English
Keywords:
UUID:
uuid:d6080682-29bb-4400-ac19-739231e8919d
Local pid:
pubs:237063
Source identifiers:
237063
Deposit date:
2013-11-16

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