New DGK Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome
Authors:
- Silvio FerrarisSFSilvio Ferraris
- Jacklyn PancrudoJPJacklyn Pancrudo
- Annette FeigenbaumAFAnnette Feigenbaum
- Julian RaimanJRJulian Raiman
- John ChristodoulouJCJohn Christodoulou
- David R. ThorburnDTDavid R. Thorburn
- Salvatore DiMauroSDSalvatore DiMauro
Open Access
- 1 May 2005
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 62 (5) , 745-747
Abstract
Mitochondrial DNA (mtDNA) depletion syndrome encompasses a clinically heterogeneous group of disorders sharing marked reduction of mtDNA copy number in one or more tissues.1 Primary mtDNA depletion syndrome is transmitted as an autosomal recessive trait and can affect single organs, typically the muscle or liver, or multiple tissues.2 Mutations in the deoxyguanosine kinase (DGK) gene usually result in the hepatic form of mtDNA depletion syndrome,3-5 whereas mutations in the thymidine kinase 2 (TK2) gene are found in patients with the myopathic form.6-8Keywords
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