NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Neurogenetics. 2007 Apr;8(2):155-7. doi: 10.1007/s10048-006-0074-9. Epub 2007 Jan 5.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acid Substitution
  • Child
  • Europe
  • Exons
  • Female
  • Genes, Dominant*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation
  • Paraplegia / genetics*

Substances

  • Membrane Proteins
  • NIPA1 protein, human