| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 1905441 | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2009 | 6 Pages |
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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Authors
Agnès Rötig, Joanna Poulton,