Expanding mutation spectrum in CPT II gene: identification of four novel mutations

J Neurol. 2013 May;260(5):1412-4. doi: 10.1007/s00415-013-6887-1. Epub 2013 Mar 9.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Carnitine O-Palmitoyltransferase / genetics*
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Male
  • Metabolism, Inborn Errors / genetics*
  • Middle Aged
  • Mutation / genetics*

Substances

  • Carnitine O-Palmitoyltransferase

Supplementary concepts

  • Carnitine palmitoyl transferase 2 deficiency