Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome
β Scribed by Sezer, T.; Ozcay, F.; Balci, O.; Alehan, F.
- Book ID
- 127324300
- Publisher
- SAGE Publications
- Year
- 2014
- Tongue
- English
- Weight
- 133 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0883-0738
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## 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
Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia. In this series, we have identified 15 different mutations in the DGUOK gene from 9 kindreds. Among them, 12 have not previ