Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency
Authors:
- Jan-Willem TaanmanJTJan-Willem Taanman
- Frédéric GottrandFGFrédéric Gottrand
- Anne LombèsALAnne Lombès
- 1 August 2005
- journal article
- case report
- Published by Elsevier in Journal of Hepatology
- Vol. 43 (2) , 333-341
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutationActa Neuropathologica, 2004
- POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletionAnnals of Neurology, 2004
- Hepatocerebral Mitochondrial DNA Depletion Syndrome: Clinical and Morphologic Features of a Nuclear Gene MutationJournal of Pediatric Gastroenterology and Nutrition, 2004
- Muscle Glycogenosis and Mitochondrial Hepatopathy in an Infant With Mutations in Both the Myophosphorylase and Deoxyguanosine Kinase GenesArchives of Neurology, 2003
- A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNAAnnals of Neurology, 2002
- Mitochondrial DNA depletion and dGK gene mutationsAnnals of Neurology, 2002
- Depletion of the other genome-mitochondrial DNA depletion syndromes in humansJournal of Molecular Medicine, 2002
- The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNANature Genetics, 2001
- Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathyNature Genetics, 2001
- Molecular Mechanisms in Mitochondrial DNA Depletion SyndromeHuman Molecular Genetics, 1997