Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia

J Neurol. 2006 Aug;253(8):1111-2. doi: 10.1007/s00415-006-0209-9. Epub 2006 Apr 28.
No abstract available

Publication types

  • Letter

MeSH terms

  • Cerebellar Ataxia / genetics*
  • Cysteine / genetics*
  • Female
  • Humans
  • Isoenzymes / genetics
  • Male
  • Middle Aged
  • Mutation
  • Mutation, Missense*
  • Pedigree
  • Protein Kinase C / genetics*

Substances

  • Isoenzymes
  • protein kinase C gamma
  • Protein Kinase C
  • Cysteine