Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation

J Pediatr Gastroenterol Nutr. 2004 Feb;38(2):216-20. doi: 10.1097/00005176-200402000-00022.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Fatal Outcome
  • Female
  • Genotype
  • Humans
  • Infant, Newborn
  • Liver Failure / genetics*
  • Male
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / genetics*
  • Mutation*
  • Pedigree
  • Phenotype
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Syndrome

Substances

  • DNA, Mitochondrial
  • Phosphotransferases (Alcohol Group Acceptor)
  • deoxyguanosine kinase