A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract

Neurology. 2001 Nov 27;57(10):1930-1. doi: 10.1212/wnl.57.10.1930.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biopsy
  • Brain / pathology
  • Cataract / diagnosis
  • Cataract / genetics*
  • Dementia / diagnosis
  • Dementia / genetics*
  • Depressive Disorder / diagnosis
  • Depressive Disorder / genetics*
  • Diagnosis, Differential
  • Electron Transport Complex I
  • Humans
  • MERRF Syndrome / diagnosis
  • MERRF Syndrome / genetics
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal / pathology
  • NADH, NADPH Oxidoreductases / deficiency*
  • Point Mutation / genetics*
  • RNA, Transfer, Leu / genetics*

Substances

  • RNA, Transfer, Leu
  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex I