Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset

Eur Neurol. 2009;61(4):240-3. doi: 10.1159/000198417. Epub 2009 Jan 31.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Frataxin
  • Friedreich Ataxia / diagnosis
  • Friedreich Ataxia / genetics*
  • Heterozygote
  • Humans
  • Introns
  • Iron-Binding Proteins / genetics*
  • Male
  • Point Mutation*
  • RNA Splice Sites
  • Siblings
  • Trinucleotide Repeat Expansion
  • Young Adult

Substances

  • Iron-Binding Proteins
  • RNA Splice Sites