[Juvenile Alpers disease]

Rev Neurol. 2013 Dec 16;57(12):574-6.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Age of Onset
  • Brain / pathology
  • DNA Polymerase gamma
  • DNA, Mitochondrial / genetics
  • DNA-Directed DNA Polymerase / genetics
  • Diffuse Cerebral Sclerosis of Schilder / diagnosis*
  • Diffuse Cerebral Sclerosis of Schilder / epidemiology
  • Diffuse Cerebral Sclerosis of Schilder / genetics
  • Diffuse Cerebral Sclerosis of Schilder / pathology
  • Disease Progression
  • Electromyography
  • Epilepsies, Partial / genetics
  • Genetic Heterogeneity
  • Homozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal / pathology
  • Mutation, Missense
  • Phenotype
  • Point Mutation

Substances

  • DNA, Mitochondrial
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human