Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

doi:10.1016/j.jacc.2015.10.093

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Article

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

Journal of the American College of Cardiology - 9 Feb 2016

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

Abstract excerpt

BACKGROUND: 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. OBJECTIVES: This study aimed to identify new genes involved in pediatric cardiomyopathy. METHODS: The authors performed...

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Identifiers

PMID: 26846950
DOI: 10.1016/j.jacc.2015.10.093

Genes

ALPK3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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