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.
MacLennan
D H
DH
Banting and Best Department of Medical Research, University of Toronto, Ontario, Canada.
D005838:Genotype; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics*; D009154:Mutation; D010641:Phenotype