Reversion of mtDNA depletion in a patient with TK2 deficiency
- 8 April 2003
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 60 (7) , 1203-1205
- https://doi.org/10.1212/01.wnl.0000055928.58122.47
Abstract
Mutations in the thymidine kinase 2 (TK2) gene cause a myopathic form of the mitochondrial DNA depletion syndrome (MDS). Here, the authors report the unusual clinical, biochemical, and molecular findings in a 14-year-old patient in whom pathogenic mutations were identified in the TK2 gene. This report extends the phenotypic expression of primary TK2 deficiency and suggests that factors other than TK2 may modify expression of the clinical phenotype in patients with MDS syndrome.Keywords
This publication has 9 references indexed in Scilit:
- Mitochondrial DNA depletionNeurology, 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
- Late‐onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensationAnnals of Neurology, 2001
- Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutationsAnnals of Neurology, 2000
- Selective assays for thymidine kinase 1 and 2 and deoxycytidine kinase and their activities in extracts from human cells and tissuesBiochemical and Biophysical Research Communications, 1992
- Improved methods for building protein models in electron density maps and the location of errors in these modelsActa Crystallographica Section A Foundations of Crystallography, 1991
- Cytochrome c oxidase deficiency in leigh syndromeAnnals of Neurology, 1987