No correlation between amount of aberrant transcript and severity of phenotype in hereditary spastic paraplegia patients with a c.1242A > G splice mutation in the SPG4 gene

J Neurol. 2006 Jun;253(6):804-5. doi: 10.1007/s00415-005-0074-y. Epub 2005 Dec 13.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Aged
  • DNA Mutational Analysis / methods
  • Exons
  • Family Health
  • Female
  • Humans
  • Mutation*
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastin

Substances

  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human