## 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
✦ LIBER ✦
Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome
✍ Scribed by Robert K. Naviaux; William L. Nyhan; Bruce A. Barshop; Joanna Poulton; David Markusic; Nancy C. Karpinski; Richard H. Haas
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 130 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0364-5134
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## Abstract Defects in NADH:ubiquinone oxidoreductase (complex I), the largest complex of the mitochondrial respiratory chain, account for most cases of respiratory chain deficiency in human. Complex I contains at least 45 subunits, 7 of which are encoded by mitochondrial DNA (mtDNA). Here we repor