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Mutations in RYR1 in malignant hyperthermia and central core disease
The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation–contraction coupling and skeletal muscle calcium homeostasis. Mapping to
The role of CACNA1S in predisposition to malignant hyperthermia
The study identified a single potentially pathogenic change in CACNA1S (p.Arg174Trp), and highlights that the haplotype structure across CAC NA1S is diverse, with a high degree of variability.
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes
This represents the most extensive study of MH patient clinical and genetic data to date and demonstrates that RYR1 mutations involved in CCD are those associated with one end of the spectrum of MH IVCT phenotypes.
Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?
Assessment of RYR1 mutation prevalence and genotype/phenotype correlation analysis in a sample of over 500 unrelated European MH susceptible individuals highlights the possible limitations of MH screening methods.
Multiple interacting gene products may influence susceptibility to malignant hyperthermia
Analysis of data from 130 MH nuclear families suggested that variations in more than one gene may influence MH susceptibility in single families.
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia
Detection of the same mutation in three independent MH families suggested that 7025A>G represents a novel MH‐susceptibility allele and that MH and HypoPP occurred independently in the case presented, but conclusive evidence in support of the hypothesis that the disorders are allelic was therefore not obtained.
Genetic variation in RYR1 and malignant hyperthermia phenotypes.
Differences in phenotype severity between RYR1 variants may explain the variability in clinical penetrance of MH during anaesthesia and why some variants have been associated with exercise-induced rhabdomyolysis and heat stroke.
Several interacting genes influence the malignant hyperthermia phenotype
Data is presented on a replica analysis of an independent sample of European MH families to support the hypothesis that several genes influence susceptibility in individual families, rather than MH simply being a major gene defect.
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.
Individuals from eight CCD families were screened for the presence of 13 mutations in the skeletal muscle ryanodine receptor gene, reported previously to be associated with MH and/or CCD: none was detected and there was unequivocal evidence that CCD, in common with MH, is genetically heterogeneous.
Genetic epidemiology of malignant hyperthermia in the UK