CoQ10 deficiency diseases in adults |
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| Institution: | 1. Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK;2. Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK;3. NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK;4. Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK;5. Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;6. Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;1. Department of Cellular Biology and Anatomy, Medical College of Georgia at Georgia Regents University and Charlie Norwood VA Medical Center, Augusta, Georgia, USA;2. Department of Urology, Zhongnan Hospital, Wuhan University, Wuhan, China;3. Department of Nephrology, Zhongnan Hospital, Wuhan University, Wuhan, China;4. Department of Emergency Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China;5. Department of Nephrology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China;6. Department of Pharmacology and Toxicology, Medical College of Georgia at Georgia Regents University and Charlie Norwood VA Medical Center, Augusta, Georgia, USA |
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| 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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