• Curr. Opin. Neurol. · Oct 1995

    Review

    Discordance between phenotype and genotype in malignant hyperthermia.

    • D H MacLennan.
    • Banting and Best Department of Medical Research, University of Toronto, Ontario, Canada.
    • Curr. Opin. Neurol. 1995 Oct 1;8(5):397-401.

    AbstractEight 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.

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