Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant.

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Title: Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant.
Authors: van Drie E; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands; Netherlands Heart Institute, Moreelsepark 1, 3511 EP Utrecht, the Netherlands; Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart' (ERN GUARDHEART; http://guardheart.ern-net.eu), the Netherlands. Electronic address: e.vandrie@umcutrecht.nl., Jongbloed JDH; Department of Genetics, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands., Hoorntje E; Department of Genetics, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands., van der Zwaag PA; Department of Genetics, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands., Cox MGPJ; Department of Cardiology, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands., Deprez RHL; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Houweling AC; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Proost VP; Amsterdam UMC location University of Amsterdam, Department of Cardiology, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Wilde AAM; Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart' (ERN GUARDHEART; http://guardheart.ern-net.eu), the Netherlands; Amsterdam UMC location University of Amsterdam, Department of Cardiology, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Dooijes D; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Baas AF; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands; Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart' (ERN GUARDHEART; http://guardheart.ern-net.eu), the Netherlands., Te Riele ASJM; Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart' (ERN GUARDHEART; http://guardheart.ern-net.eu), the Netherlands; Department of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Spaendonck-Zwarts KY; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands; Netherlands Heart Institute, Moreelsepark 1, 3511 EP Utrecht, the Netherlands; Department of Genetics, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands., Lodder EM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., van Tintelen JP; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands; Netherlands Heart Institute, Moreelsepark 1, 3511 EP Utrecht, the Netherlands; Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart' (ERN GUARDHEART; http://guardheart.ern-net.eu), the Netherlands.
Source: International journal of cardiology [Int J Cardiol] 2025 Aug 01; Vol. 432, pp. 133264. Date of Electronic Publication: 2025 Apr 11.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1874-1754
DOI:10.1016/j.ijcard.2025.133264