Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

doi:10.1016/j.ahj.2020.03.023

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Article

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

American heart journal - 1 Jul 2020

Herkert Johanna C, Verhagen Judith M A, Yotti Raquel, Haghighi Alireza, Phelan Dean G, James Paul A, Brown Natasha J, Stutterd Chloe, Macciocca Ivan, Leong Kai'En, Bulthuis Marian L C, van Bever Yolande, van Slegtenhorst Marjon A, Boven Ludolf G, Roberts Amy E, Agarwal Radhika, Seidman Jonathan, Lakdawala Neal K, Fernández-Avilés Francisco, Burke Michael A, Pierpont Mary Ella, Braunlin Elizabeth, Ḉağlayan Ahmet Okay, Barge-Schaapveld Daniela Q C M, Birnie Erwin, van Osch-Gevers Lennie, van Langen Irene M, Jongbloed Jan D H, Lockhart Paul J, Amor David J, Seidman Christine E, van de Laar Ingrid M B H

Abstract excerpt

INTRODUCTION: Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined. METHODS AND RESULTS: We analyzed clinical manifestations of damaging biallelic ALPK3 variants in 19 pediatric patients, including nine previously published cases. Among these, 11 loss-of-function (LoF) variants, seven compound LoF and...

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PMID: 32480058
DOI: 10.1016/j.ahj.2020.03.023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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