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Brea-Calvo et al., CoQ 10 deficiency syndrome CoQ 10 deficiencies are based on decreased CoQ 10 levels and can be measured in skeletal muscle and/or skin fibroblast from patients suffering these rare (frequency less than 1:100000) inherited clinically and genetically heterogeneous diseases that impair oxidative phosphorylation and other mitochondrial functions (Desbats et al., 10 deficiency can be caused by mutations in COQ genes that encode proteins of the CoQ biosynthesis pathway (primary deficiency) or as a secondary deficiency caused by defects in other mitochondrial functions that are indirectly involved in the biosynthesis of CoQ 10 (Doimo et al., 2016

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10.1111/j.1742-7843.2008.00318.x Basic Clin Pharmacol Toxicol