Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

Am J Hum Genet. 1997 May;60(5):1251-6.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Chromosome Mapping
  • Conserved Sequence
  • Female
  • Friedreich Ataxia / etiology*
  • Heterozygote*
  • Humans
  • Iron-Binding Proteins*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Polymerase Chain Reaction
  • Sequence Homology, Amino Acid
  • Trinucleotide Repeats*

Substances

  • Iron-Binding Proteins
  • frataxin
  • Phosphotransferases (Alcohol Group Acceptor)