King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene

Neurology. 2008 Sep 2;71(10):776-7. doi: 10.1212/01.wnl.0000324929.33780.2f.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Exons / genetics
  • Female
  • Follow-Up Studies
  • Humans
  • Magnetic Resonance Imaging / methods
  • Malignant Hyperthermia / complications
  • Malignant Hyperthermia / genetics*
  • Malignant Hyperthermia / pathology
  • Muscular Diseases / complications
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Mutation / genetics*
  • Ryanodine Receptor Calcium Release Channel / genetics*

Substances

  • Ryanodine Receptor Calcium Release Channel