Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
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.
Chamley
D
D
Department of Anaesthesia, Middlemore Hospital, Auckland, New Zealand.
Pollock
N A
NA
Stowell
K M
KM
Brown
R L
RL
D018076:DNA, Complementary / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics* / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
D018076:DNA, Complementary