title: Several interacting genes influence the malignant hyperthermia phenotype.
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.
authors.affiliation: MH Investigation Unit, Academic Unit of Anaesthesia, St James University Hospital, Leeds, LS9 7TF, UK. medrlr@stjames.leeds.ac.uk
authors.forename: Rachel
authors.initials: R
authors.lastname: Robinson
authors.forename: Philip
authors.initials: P
authors.lastname: Hopkins
authors.forename: Antonella
authors.initials: A
authors.lastname: Carsana
authors.forename: Hermann
authors.initials: H
authors.lastname: Gilly
authors.forename: Jane
authors.initials: J
authors.lastname: Halsall
authors.forename: Luc
authors.initials: L
authors.lastname: Heytens
authors.forename: Gunilla
authors.initials: G
authors.lastname: Islander
authors.forename: Karin
authors.initials: K
authors.lastname: Jurkat-Rott
authors.forename: Clemens
authors.initials: C
authors.lastname: Müller
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Shaw
mesh_terms: D020746:Calcium Channels, L-Type / Q000235:genetics; D020013:Calcium Signaling / Q000187:drug effects; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005190:Family; D005260:Female; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008305:Malignant Hyperthermia / Q000209:etiology / Q000235:genetics*; D018482:Muscle, Skeletal / Q000187:drug effects / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics
chemical_list: D020746:Calcium Channels, L-Type; D005819:Genetic Markers; D019837:Ryanodine Receptor Calcium Release Channel