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

AuthorsC E D'Arcy, A Bjorksten, E M Yiu, A Bankier, R Gillies, C A McLean, L K Shield, M M Ryan
JournalNeurology (Neurology) Vol. 71 Issue 10 Pg. 776-7 (Sep 02 2008) ISSN: 1526-632X [Electronic] United States
PMID18765655 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Ryanodine Receptor Calcium Release Channel
Topics
  • Adult
  • Exons (genetics)
  • Female
  • Follow-Up Studies
  • Humans
  • Magnetic Resonance Imaging (methods)
  • Malignant Hyperthermia (complications, genetics, pathology)
  • Muscular Diseases (complications, genetics, pathology)
  • Mutation (genetics)
  • Ryanodine Receptor Calcium Release Channel (genetics)

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