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Article

Clinical spectrum in multiple families with primary COQ10 deficiency.

American journal of medical genetics. Part A - 1 Feb 2021

Hashemi Seyyed S, Zare-Abdollahi Davood, Bakhshandeh Mohammad K, Vafaee Amirreza, Abolhasani Sona, Inanloo Rahatloo Kolsoum, DanaeeFard Fardad, Farboodi Niloofar, Rohani Mohammad, Alavi Afagh

Abstract excerpt

Coenzyme Q10/ COQ10 , an essential cofactor in the electron-transport chain is involved in ATP production. Primary COQ10 deficiency is clinically and genetically a heterogeneous group of mitochondrial disorders caused by defects in the COQ10 synthesis pathway. Its mode of inheritance is autosomal recessive and it is characterized by metabolic abnormalities and multisystem involvement including neurological...

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PMID: 33215859
DOI: 10.1002/ajmg.a.61983

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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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