| Literature DB >> 19596444 |
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.Entities:
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Year: 2009 PMID: 19596444 DOI: 10.1016/j.bbadis.2009.06.009
Source DB: PubMed Journal: Biochim Biophys Acta ISSN: 0006-3002