A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation

Neurology. 2007 Aug 21;69(8):804-6. doi: 10.1212/01.wnl.0000267665.44477.85.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Substitution / genetics
  • Asian People / genetics
  • Carnitine / blood
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Carnitine O-Palmitoyltransferase / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Markers / genetics
  • Genotype
  • Homozygote
  • Humans
  • Japan / ethnology
  • Metabolic Diseases / enzymology*
  • Metabolic Diseases / ethnology
  • Metabolic Diseases / genetics*
  • Metabolism, Inborn Errors / enzymology*
  • Metabolism, Inborn Errors / ethnology
  • Metabolism, Inborn Errors / genetics*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics
  • Phenotype
  • Rhabdomyolysis / enzymology
  • Rhabdomyolysis / genetics
  • Rhabdomyolysis / physiopathology

Substances

  • Genetic Markers
  • Carnitine O-Palmitoyltransferase
  • Carnitine