Malignant hyperthermia in infancy and identification of novel RYR1 mutation
Copyright policy )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.
- Middlemore Hospital New Zealand
- Counties Manukau District Health Board New Zealand
Male, DNA, Complementary, Mutation, Humans, Infant, Genetic Predisposition to Disease, Malignant Hyperthermia, Muscle, Skeletal, Polymerase Chain Reaction, Pedigree
Male, DNA, Complementary, Mutation, Humans, Infant, Genetic Predisposition to Disease, Malignant Hyperthermia, Muscle, Skeletal, Polymerase Chain Reaction, Pedigree
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