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Article

Primary and secondary CoQ(10) deficiencies in humans.

BioFactors (Oxford, England) - 1 Jan 2000

Quinzii Catarina M, Hirano Michio

Abstract excerpt

CoQ(10) deficiencies are clinically and genetically heterogeneous. This syndrome has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ(10) (primary CoQ(10)...

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Identifiers

PMID: 21990098
DOI: 10.1002/biof.155
PMCID: PMC3258494

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Source receipt: pubmed, retrieved 7 Sept 2026.

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