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Several interacting genes influence the malignant hyperthermia phenotype

Robinson, R; Hopkins, P; Carsana, A; Gilly, H; Halsall, J; Heytens, L; Islander, Gunilla LU ; Jurkat-Rott, K; Muller, C and Shaw, MA (2003) In Human Genetics 112(2). p.217-218
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.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
112
issue
2
pages
217 - 218
publisher
Springer
external identifiers
  • wos:000180878200017
  • pmid:12522565
  • scopus:0037315256
ISSN
1432-1203
DOI
10.1007/s00439-002-0864-6
language
English
LU publication?
yes
id
e5371d1b-5606-47b5-b387-23766b0f78d2 (old id 318650)
date added to LUP
2007-09-20 18:01:02
date last changed
2018-09-30 04:04:03
@article{e5371d1b-5606-47b5-b387-23766b0f78d2,
  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.},
  author       = {Robinson, R and Hopkins, P and Carsana, A and Gilly, H and Halsall, J and Heytens, L and Islander, Gunilla and Jurkat-Rott, K and Muller, C and Shaw, MA},
  issn         = {1432-1203},
  language     = {eng},
  number       = {2},
  pages        = {217--218},
  publisher    = {Springer},
  series       = {Human Genetics},
  title        = {Several interacting genes influence the malignant hyperthermia phenotype},
  url          = {http://dx.doi.org/10.1007/s00439-002-0864-6},
  volume       = {112},
  year         = {2003},
}