Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like sy...
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
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Author / Creator
Uzumcu, A , Norgett, E E , Dindar, A , Uyguner, O , Nisli, K , Kayserili, H , Sahin, S E , Dupont, E , Severs, N J , Leigh, I M , Yuksel-Apak, M , Kelsell, D P and Wollnik, B
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
Background: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell membrane. Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by alternative splicing. Methods: We describe a patient with a recessively inherited arrhythmogenic dila...
Alternative Titles
Full title
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2564645
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2564645
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.2005.032904
