Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Almomani, Rowida; Verhagen, Judith M. A.; van Spaendonck Zwarts, Karin Y.; van der Zwaag, Paul A.; Herkert, Johanna C.; van Slegtenhorst, Marjon A.; Brosens, Erwin; van der Smagt, Jasper J.; van IJcken, Wilfred F. J.; Asimaki, Angeliki; van Stuijvenberg, Margriet; Frohn Mulder, Ingrid M. E.; Bertoli Avella, Aida M.; du Plessis, Frederik A.; Boven, Ludolf G.; van Tintelen, J. Peter; Timmer, Bert; Wessels, Marja W.; Verdijk, Rob M.; van de Laar, Ingrid M. B. H.; Saffitz, Jeffrey E.; Michels, Michelle; Hofstra, Robert M. W.; Sinke, Richard J.; Peter van Tintelen, J.; Jongbloed, Jan D. H.

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Elsevier, Journal of the American College of Cardiology, 5(67), p. 515-525, 2016

DOI: 10.1016/j.jacc.2015.10.093

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Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Journal article published in 2016 by Rowida Almomani, Judith M. A. Verhagen, Karin Y. van Spaendonck Zwarts, Paul A. van der Zwaag, Johanna C. Herkert, Marjon A. van Slegtenhorst, Erwin Brosens

, Jasper J. van der Smagt, Wilfred F. J. van IJcken

, Angeliki Asimaki, Margriet van Stuijvenberg, Ingrid M. E. Frohn Mulder, Aida M. Bertoli Avella, Frederik A. du Plessis, Ludolf G. Boven and other authors.

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Abstract

Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding of the molecular basis of pediatric cardiomyopathy has improved, the underlying mechanism remains elusive in a substantial proportion of cases.

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Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Abstract