Several interacting genes influence the malignant hyperthermia phenotype

R Robinson, P Hopkins, A Carsana, H Gilly, J Halsall, L Heytens, Gunilla Islander, K Jurkat-Rott, C Muller, MA Shaw

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49 Citations (SciVal)

Abstract

Malignant hyperthermia (MH), a potentially lethal disorder of skeletal muscle calcium homeostasis, manifests only on exposure to certain anaesthetic drugs. The mode of inheritance appears to be autosomal dominant with both locus and allelic heterogeneity having been reported. Association analysis of eight MH candidate loci in UK families has indicated that several genes influence susceptibility in individual families, rather than MH simply being a major gene defect. In support of this hypothesis, we present data on a replica analysis of an independent sample of European MH families.
Original languageEnglish
Pages (from-to)217-218
JournalHuman Genetics
Volume112
Issue number2
DOIs
Publication statusPublished - 2003

Subject classification (UKÄ)

  • Medical Genetics

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