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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
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  Data: Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant.
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  Data: <searchLink fieldCode="AU" term="%22van+Drie+E%22">van Drie E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jongbloed+JDH%22">Jongbloed JDH</searchLink>; Department of Genetics, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoorntje+E%22">Hoorntje E</searchLink>; Department of Genetics, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Zwaag+PA%22">van der Zwaag PA</searchLink>; Department of Genetics, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Cox+MGPJ%22">Cox MGPJ</searchLink>; Department of Cardiology, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Deprez+RHL%22">Deprez RHL</searchLink>; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Houweling+AC%22">Houweling AC</searchLink>; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Proost+VP%22">Proost VP</searchLink>; Amsterdam UMC location University of Amsterdam, Department of Cardiology, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Wilde+AAM%22">Wilde AAM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dooijes+D%22">Dooijes D</searchLink>; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Baas+AF%22">Baas AF</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Te+Riele+ASJM%22">Te Riele ASJM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22van+Spaendonck-Zwarts+KY%22">van Spaendonck-Zwarts KY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lodder+EM%22">Lodder EM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22van+Tintelen+JP%22">van Tintelen JP</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%228200291%22">International journal of cardiology</searchLink> [Int J Cardiol] 2025 Aug 01; Vol. 432, pp. 133264. <i>Date of Electronic Publication: </i>2025 Apr 11.
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