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The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

✍ Scribed by N. Brahimi; M. Jambou; E. Sarzi; V. Serre; N. Boddaert; S. Romano; P. de Lonlay; A. Slama; A. Munnich; A. Rötig; J.P. Bonnefont; A.S. Lebre

Book ID
116988648
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
894 KB
Volume
97
Category
Article
ISSN
1096-7192

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Novel mutation in DGUOK in hepatocerebra
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✍ Venu T. Tadiboyina; Anthony Rupar; Paul Atkison; Annette Feigenbaum; Jonathan Kr 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 2 views

## 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