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Genetic causes of mitochondrial DNA depletion in humans |
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| Authors: | Agnès Rötig Joanna Poulton |
| Institution: | 1. INSERM U781, Hôpital Necker-Enfants Malades, Université René Descartes Paris V, 149 rue de Sèvres, 75015 Paris, France;2. Nuffield Department of Obstetrics & Gynaecology, University of Oxford, The Womens Centre, John Radcliffe Hospital, Oxford, OX3 9DU, UK |
| Abstract: | Mitochondrial DNA (mtDNA) depletion is characterized by a profound reduction of mtDNA copy number. The maintenance of mtDNA copy number requires several nuclear-encoded factors involved in replication and in dNTP supply. In the past decade mutations in several of these factors have been reported in a growing number of syndromes. This article reviews the current knowledge of genes causing mitochondrial DNA depletion syndromes. |
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