Malignant hyperthermia in infancy and identification of novel RYR1 mutation

Br J Anaesth. 2000 Apr;84(4):500-4. doi: 10.1093/oxfordjournals.bja.a013478.


Malignant hyperthermia (MH) has been reported as non-existent in children less than 1 yr old, although several unconfirmed reports have been published. A case report of MH in a 6-month-old child is presented, with confirmation of MH susceptibility by in vitro contracture testing of quadriceps muscle at 13 yr old. Genetic analysis revealed a novel RYR1 mutation that substitutes arginine 2452 for tryptophan in a region of the calcium channel mutated in several other MH pedigrees.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Complementary / genetics
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Male
  • Malignant Hyperthermia / genetics*
  • Malignant Hyperthermia / physiopathology
  • Muscle, Skeletal / physiopathology
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction


  • DNA, Complementary