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CoQ10 deficiency diseases in adults Quinzii CM; Hirano M; DiMauro SMitochondrion 2007[Jun]; 7 Suppl (Suppl): S122-6Deficiency of Coenzyme Q10 (CoQ10) in muscle has been associated with a spectrum of diseases including infantile-onset multi-systemic diseases, encephalomyopathies with recurrent myobinuria, cerebellar ataxia, and pure myopathy. CoQ10 deficiency predominantly affects children, but patients have presented with adult-onset cerebellar ataxia or myopathy. Mutations in the CoQ10 biosynthetic genes, COQ2 and PDSS2, have been identified in children with the infantile form of CoQ10 deficiency; however, the molecular genetic bases of adult-onset CoQ10 deficiency remains undefined.|Adult[MESH]|Cerebellar Ataxia/diagnosis/metabolism[MESH]|Electron Transport[MESH]|Female[MESH]|Humans[MESH]|Male[MESH]|Middle Aged[MESH]|Mitochondrial Encephalomyopathies/diagnosis/metabolism[MESH]|Models, Biological[MESH]|Models, Chemical[MESH]|Muscle, Skeletal/metabolism[MESH]|Muscles/metabolism/pathology[MESH]|Muscular Diseases/diagnosis/metabolism[MESH]|Ubiquinone/*analysis/*deficiency[MESH] |
