Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

Neurogenetics. 2013 Feb;14(1):85-7. doi: 10.1007/s10048-013-0355-z. Epub 2013 Jan 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Child, Preschool
  • Electron Transport Complex I
  • Female
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Male
  • Mutation, Missense
  • NADH Dehydrogenase / genetics*
  • Pedigree
  • Siblings
  • Striatonigral Degeneration / congenital*
  • Striatonigral Degeneration / genetics

Substances

  • NDUFV1 protein, human
  • NADH Dehydrogenase
  • Electron Transport Complex I

Supplementary concepts

  • Striatonigral degeneration infantile