No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy
About this item
Full title
Author / Creator
Hoorntje, Edgar T. , Posafalvi, Anna , Syrris, Petros , van der Velde, K. Joeri , Bolling, Marieke C. , Protonotarios, Alexandros , Boven, Ludolf G. , Amat-Codina, Nuria , Groeneweg, Judith A. , Wilde, Arthur A. , Sobreira, Nara , Calkins, Hugh , Hauer, Richard N. W. , Jonkman, Marcel F. , McKenna, William J. , Elliott, Perry M. , Sinke, Richard J. , van den Berg, Maarten P. , Chelko, Stephen P. , James, Cynthia A. , van Tintelen, J. Peter , Judge, Daniel P. and Jongbloed, Jan D. H.
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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More information
Scope and Contents
Contents
Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the genetic substrate remains unknown. We hypothesized that plectin, a cytolinker protein encoded by the PLEC gen...
Alternative Titles
Full title
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy
Authors, Artists and Contributors
Author / Creator
Posafalvi, Anna
Syrris, Petros
van der Velde, K. Joeri
Bolling, Marieke C.
Protonotarios, Alexandros
Boven, Ludolf G.
Amat-Codina, Nuria
Groeneweg, Judith A.
Wilde, Arthur A.
Sobreira, Nara
Calkins, Hugh
Hauer, Richard N. W.
Jonkman, Marcel F.
McKenna, William J.
Elliott, Perry M.
Sinke, Richard J.
van den Berg, Maarten P.
Chelko, Stephen P.
James, Cynthia A.
van Tintelen, J. Peter
Judge, Daniel P.
Jongbloed, Jan D. H.
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_8c4c11f0bd934c179abf128780e3a5e2
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8c4c11f0bd934c179abf128780e3a5e2
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0203078
