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Article

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Journal of human genetics - 1 Oct 2018

Jaouadi Hager, Kraoua Lilia, Chaker Lilia, Atkinson Alexandre, Delague Valérie, Levy Nicolas, Benkhalifa Rym, Mrad Ridha, Abdelhak Sonia, Zaffran Stéphane

Abstract excerpt

Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric cardiomyopathies. Only eight patients carrying mutations in ALPK3 have been reported to date. Here, we report a 3-year-old male patient with both hypertrophic and dilated cardiomyopathy. The patient presented dysmorphic features...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30046096
DOI: 10.1038/s10038-018-0492-1

Genes

ALPK3

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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