Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia

Author:

Urwyler A,Deufel T,McCarthy T,West S

Publisher

Elsevier BV

Subject

Anesthesiology and Pain Medicine

Reference24 articles.

1. In vitro contracture test for the diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects;Ording H for the European Malignant Hyperthermia Group;Acta Anaesthesiol Scand,1997

2. Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12–13.2, comprising the C1840T transition in the RYR1 gene;Deufel;Am J Hum Genet,1995

3. The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree;Adeokun;Am J Hum Genet,1997

4. Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred;Lynch;Anesthesiology,1997

5. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia;Quane;Nature Genet,1993

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