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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.

Original publication

DOI

10.1016/j.bbadis.2009.06.009

Type

Journal article

Journal

Biochim Biophys Acta

Publication Date

12/2009

Volume

1792

Pages

1103 - 1108

Keywords

DNA, Mitochondrial, Gene Deletion, Humans, Mitochondrial Diseases