COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.

doi:10.1038/s41431-024-01615-w

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Article

COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.

European journal of human genetics : EJHG - 1 Aug 2024

Pettenuzzo Ilaria, Carli Sara, Sánchez-Cuesta Ana, Isidori Federica, Montanari Francesca, Grippa Mina, Lanzoni Giulia, Ambrosetti Irene, Di Pisa Veronica, Cordelli Duccio Maria, Mondardini Maria Cristina, Pippucci Tommaso, Ragni Luca, Cenacchi Giovanna, Costa Roberta, Lima Mario, Capristo Maria Antonietta, Tropeano Concetta Valentina, Caporali Leonardo, Carelli Valerio, Brunelli Elena, Maffei Monica, Ahmed Sheikhmaye Hodman, Fetta Anna, Brea-Calvo Gloria, Garone Caterina

Abstract excerpt

COQ7 pathogenetic variants cause primary CoQ10 deficiency and a clinical phenotype of encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is essential for promptly starting CoQ10 supplementation. Here, we report novel compound heterozygous variants in the COQ7 gene responsible for a prenatal onset (20 weeks of gestation) of hypertrophic cardiomyopathy and intestinal dysmotility in a...

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Identifiers

PMID: 38702428
DOI: 10.1038/s41431-024-01615-w
PMCID: PMC11291740

Genes

COQ7

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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