Article
Mitochondrial DNA depletion and dGK gene mutations.
Annals of neurology - 1 Sept 2002
Salviati Leonardo, Sacconi Sabrina, Mancuso Michelangelo, Otaegui David, Camaño Pilar, Marina Alberto, Rabinowitz Simon, Shiffman Rebecca, Thompson Karen, Wilson Claire M, Feigenbaum Annette, Naini Ali B, Hirano Michio, Bonilla Eduardo, DiMauro Salvatore, Vu Tuan H
Abstract excerpt
Mitochondrial DNA depletion syndrome is a clinically heterogeneous group of disorders characterized by a reduction in mitochondrial DNA copy number. The recent discovery of mutations in the deoxyguanosine kinase (dGK) gene in patients with the hepatocerebral form of mitochondrial DNA depletion syndrome prompted us to screen 21 patients to determine the frequency of dGK mutations, further characterize the clinical...
Topics
- Amino Acid Sequence
- DNA, Mitochondrial
- Female
- Gene Dosage
- Genotype
- Heterozygote
- Homozygote
- Humans
- Infant
- Liver Failure
- Male
- Mutation, Missense
- Phenotype