Discordance between phenotype and genotype in malignant hyperthermia.
Eight mutations in the ryanodine receptor gene on human chromosome 19q13.1 have been linked to malignant hyperthermia. Although 50% of malignant hyperthermia families are not linked to the ryanodine receptor gene, only single malignant hyperthermia families have been linked to alternative loci on chromosome 7q21-22 and on chromosome 3q13.1. Problems in malignant hyperthermia linkage studies may arise from the inadequacy of the caffeine halothane contractures test for phenotypic diagnosis of malignant hyperthermia.
Banting and Best Department of Medical Research, University of Toronto, Ontario, Canada.
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MacLennan
D005838:Genotype; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics*; D009154:Mutation; D010641:Phenotype