Publication
Title
Several interacting genes influence the malignant hyperthermia phenotype
Author
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.
Language
English
Source (journal)
Human genetics. - Berlin
Publication
Berlin : 2003
ISSN
0340-6717 [print]
1432-1203 [online]
DOI
10.1007/S00439-002-0864-6
Volume/pages
112 :2 (2003) , p. 217-218
ISI
000180878200017
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 03.01.2013
Last edited 16.12.2021
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