Identification of a de novo mutation in SPG11

Mov Disord. 2010 Mar 15;25(4):501-3. doi: 10.1002/mds.22964.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Atrophy / complications
  • Child
  • Chromosomes, Human, Pair 15 / genetics
  • Chromosomes, Human, Y / genetics
  • Corpus Callosum / pathology*
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Humans
  • Male
  • Paraplegia / complications*
  • Paraplegia / genetics*
  • Pedigree
  • Point Mutation / genetics*
  • Proteins / genetics*
  • Young Adult

Substances

  • Proteins
  • SPG11 protein, human