Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

Neurology. 2003 Aug 26;61(4):580-1. doi: 10.1212/01.wnl.0000078189.73611.df.
No abstract available

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acid Substitution
  • Child
  • Child, Preschool
  • Exons / genetics
  • Female
  • GTP Phosphohydrolases / genetics*
  • GTP-Binding Proteins
  • Gait Disorders, Neurologic / genetics
  • Humans
  • Infant
  • Lod Score
  • Male
  • Membrane Proteins
  • Mutation, Missense*
  • Pedigree
  • Point Mutation*
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / epidemiology
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Membrane Proteins
  • ATL1 protein, human
  • GTP Phosphohydrolases
  • GTP-Binding Proteins