Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

Neurology. 2004 Jun 8;62(11):2138-9. doi: 10.1212/01.wnl.0000127698.88895.85.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • GTP Phosphohydrolases / chemistry
  • GTP Phosphohydrolases / genetics*
  • GTP-Binding Proteins
  • Genes, Dominant
  • Genetic Heterogeneity
  • Heterozygote
  • Humans
  • Italy
  • Male
  • Membrane Proteins
  • Mutation, Missense*
  • Pedigree
  • Penetrance
  • Point Mutation*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

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