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Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

✍ Scribed by Orly Elpeleg; Hanna Mandel; Ann Saada


Publisher
Springer
Year
2002
Tongue
English
Weight
85 KB
Volume
80
Category
Article
ISSN
0946-2716

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## Abstract Mitochondrial depletion syndrome (MDS) refers to a heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues. Mutations in __DGUOK__ encoding deoxyguanosine kinase (MIM 601465) cause the hepatocerebral form of MDS (MIM 25188