Journal article icon

Journal article

Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

Abstract:

BACKGROUND: The diagnosis of arrhythmogenic right ventricular cardiomyopathy can be challenging. Disease-causing mutations in desmosomal genes have been identified. A novel diagnostic feature, loss of immunoreactivity for plakoglobin from the intercalated disks, recently was proposed. OBJECTIVE: The purpose of this study was to identify two novel mutations in the intracellular cadherin segment of desmoglein-2 (G812S and C813R in exon 15). Co-segregation of the G812S mutation with disease expr...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1016/j.hrthm.2010.08.007

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine, BHF Centre of Research Excellence
Asimaki, A More by this author
Cahill, TJ More by this author
Expand authors...
Journal:
Heart rhythm : the official journal of the Heart Rhythm Society
Volume:
7
Issue:
10
Pages:
1446-1453
Publication date:
2010-10-05
DOI:
EISSN:
1556-3871
ISSN:
1547-5271
URN:
uuid:1a20376a-a75e-487f-9cf7-17f15b9f960c
Source identifiers:
219663
Local pid:
pubs:219663

Terms of use


Metrics



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

TO TOP