Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations

Neurology. 2012 Jul 24;79(4):391. doi: 10.1212/WNL.0b013e3182611232.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cerebellum / diagnostic imaging*
  • Cerebellum / pathology
  • Humans
  • Male
  • Mitochondrial Diseases / diagnostic imaging*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / pathology
  • Mitochondrial Proteins / genetics*
  • Mutation
  • Olivopontocerebellar Atrophies / diagnostic imaging*
  • Olivopontocerebellar Atrophies / genetics
  • Olivopontocerebellar Atrophies / pathology
  • Pons / diagnostic imaging*
  • Pons / pathology
  • Radionuclide Imaging
  • Young Adult

Substances

  • Mitochondrial Proteins
  • NUBPL protein, human