Several interacting genes influence the malignant hyperthermia phenotype
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/318650
- author
- Robinson, R ; Hopkins, P ; Carsana, A ; Gilly, H ; Halsall, J ; Heytens, L ; Islander, Gunilla LU ; Jurkat-Rott, K ; Muller, C and Shaw, MA
- organization
- publishing date
- 2003
- 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
- 2016-04-01 15:21:17
- date last changed
- 2022-01-28 04:54:16
@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}}, doi = {{10.1007/s00439-002-0864-6}}, volume = {{112}}, year = {{2003}}, }