Title
Several interacting genes influence the malignant hyperthermia phenotype Several interacting genes influence the malignant hyperthermia phenotype
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Berlin ,
Subject
Human medicine
Source (journal)
Human genetics. - Berlin
Volume/pages
112(2003) :2 , p. 217-218
ISSN
0340-6717
ISI
000180878200017
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
E-info
https://repository.uantwerpen.be/docman/iruaauth/dea375/ab24623.pdf
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