COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

doi:10.1016/j.ajhg.2014.12.023

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Article

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

American journal of human genetics - 5 Feb 2015

Brea-Calvo Gloria, Haack Tobias B, Karall Daniela, Ohtake Akira, Invernizzi Federica, Carrozzo Rosalba, Kremer Laura, Dusi Sabrina, Fauth Christine, Scholl-Bürgi Sabine, Graf Elisabeth, Ahting Uwe, Resta Nicoletta, Laforgia Nicola, Verrigni Daniela, Okazaki Yasushi, Kohda Masakazu, Martinelli Diego, Freisinger Peter, Strom Tim M, Meitinger Thomas, Lamperti Costanza, Lacson Atilano, Navas Placido, Mayr Johannes A, Bertini Enrico, Murayama Kei, Zeviani Massimo, Prokisch Holger, Ghezzi Daniele

Abstract excerpt

Primary coenzyme Q10 (CoQ10) deficiencies are rare, clinically heterogeneous disorders caused by mutations in several genes encoding proteins involved in CoQ10 biosynthesis. CoQ10 is an essential component of the electron transport chain (ETC), where it shuttles electrons from complex I or II to complex III. By whole-exome sequencing, we identified five individuals carrying biallelic mutations in COQ4. The...

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Identifiers

PMID: 25658047
DOI: 10.1016/j.ajhg.2014.12.023
PMCID: PMC4320255

Genes

COQ4

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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