| Literature DB >> 12522565 |
Rachel Robinson1, Philip Hopkins, Antonella Carsana, Hermann Gilly, Jane Halsall, Luc Heytens, Gunilla Islander, Karin Jurkat-Rott, Clemens Müller, Marie-Anne Shaw.
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.Entities:
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Year: 2002 PMID： 12522565 DOI： 10.1007/s00439-002-0864-6
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132