Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

J Med Genet. 2003 Jul;40(7):543-6. doi: 10.1136/jmg.40.7.543.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / enzymology
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Basal Ganglia Diseases / pathology*
  • Cerebellar Ataxia / pathology*
  • Child
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Humans
  • Male
  • Pedigree
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Syndrome

Substances

  • DNA
  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase