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MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

✍ Scribed by Ayman W. El-Hattab; Fang-Yuan Li; Eric Schmitt; Shulin Zhang; William J. Craigen; Lee-Jun C. Wong

Book ID
116988724
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
324 KB
Volume
99
Category
Article
ISSN
1096-7192

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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