Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2069643 | Mitochondrion | 2007 | 5 Pages |
Abstract
Deficiency 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.
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Authors
Catarina M. Quinzii, Michio Hirano, Salvatore DiMauro,