Discordance between phenotype and genotype in malignant hyperthermia

Curr Opin Neurol. 1995 Oct;8(5):397-401. doi: 10.1097/00019052-199510000-00013.


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.

Publication types

  • Review

MeSH terms

  • Genotype*
  • Humans
  • Malignant Hyperthermia / genetics*
  • Mutation
  • Phenotype*