Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.

@article{Slama2005DeoxyguanosineKM,
  title={Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.},
  author={Abdelhamid Slama and Irina Giurgea and D Debrey and Delphine Bridoux and Pascale de Lonlay and Philippe L{\'e}vy and Dominique Chr{\'e}tien and Mich{\`e}le Brivet and Alain Legrand and Pierre Rustin and Arnold Munnich and Agn{\`e}s R{\"o}tig},
  journal={Molecular genetics and metabolism},
  year={2005},
  volume={86 4},
  pages={462-5}
}
The activity of deoxyguanosine kinase (DGUOK), a mitochondrial enzyme involved in the anabolism of mitochondrial (mt) deoxyribonucleotides, governs the maintenance of the mtDNA. Deleterious mutations of the DGUOK gene are thus associated with mtDNA depletion and result in combined deficiencies of mtDNA-encoded respiratory chain enzymes. With the aim to estimate the prevalence of DGUOK mutations in a cohort of 30 patients with hepatocerebral disease and combined respiratory chain deficiencies… CONTINUE READING

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