A novel mutation in a patient with pantothenate kinase-associated neurodegeneration

CMAJ. 2005 Sep 13;173(6):578-9. doi: 10.1503/cmaj.1050096.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Aged
  • Basal Ganglia / chemistry
  • DNA Mutational Analysis
  • Female
  • Heredodegenerative Disorders, Nervous System / genetics*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*

Substances

  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase