Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

Nat Genet. 1999 Mar;21(3):260-1. doi: 10.1038/6772.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Brain / pathology
  • Brain Diseases / genetics*
  • Brain Diseases / pathology
  • Canavan Disease / genetics
  • Canavan Disease / pathology
  • Child, Preschool
  • Epilepsies, Myoclonic / genetics*
  • Epilepsies, Myoclonic / pathology
  • Female
  • Homozygote
  • Humans
  • Infant
  • Male
  • Mitochondria / genetics*
  • Molecular Sequence Data
  • Mutation, Missense*
  • NAD(P)H Dehydrogenase (Quinone) / deficiency
  • NAD(P)H Dehydrogenase (Quinone) / genetics
  • NADH Dehydrogenase
  • Pedigree
  • Pregnancy
  • Proteins / genetics*
  • Proteins / metabolism
  • Sequence Homology, Amino Acid

Substances

  • NDUFV1 protein, human
  • Proteins
  • NAD(P)H Dehydrogenase (Quinone)
  • NADH Dehydrogenase

Associated data

  • GENBANK/AE000317
  • GENBANK/AF053070
  • GENBANK/M58607
  • GENBANK/X64402
  • GENBANK/X83999
  • GENBANK/Z50109