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- Title
Several interacting genes influence the malignant hyperthermia phenotype.
- Authors
Robinson, Rachel; Hopkins, Philip; Carsana, Antonella; Gilly, Hermann; Halsall, Jane; Heytens, Luc; Islander, Gunilla; Jurkat-Rott, Karin; Müller, Clemens; Shaw, Marie-Anne
- 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.
- Subjects
UNITED Kingdom; MALIGNANT hyperthermia; GENES; PHENOTYPES; FAMILIAL diseases; HOMEOSTASIS; CALCIUM
- Publication
Human Genetics, 2003, Vol 112, Issue 2, p217
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-002-0864-6