Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? (Q44407009)

2 December 2017

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? (English)

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2 December 2017

malignant hyperthermia

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19

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Robinson RL

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Anetseder MJ

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Brancadoro V

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van Broekhoven C

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Carsana A

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Censier K

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Girard T

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Heytens L

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Hopkins PM

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Jurkat-Rott K

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Klinger W

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Kozak-Ribbens G

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Krivosic R

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Monnier N

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Nivoche Y

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Olthoff D

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Rueffert H

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Tegazzin V

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Mueller CR

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1 April 2003

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European Journal of Human Genetics

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11

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4

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342-348

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200964

2 December 2017

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Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

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Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease

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A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

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Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes

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Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

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A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

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Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

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A mutation in the human ryanodine receptor gene associated with central core disease

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Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

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RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes

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Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

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Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

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7 January 2021

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia

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7 January 2021

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

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7 January 2021

The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia

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7 January 2021

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200964

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2 December 2017

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