Editorial III: A breakthrough in the genetic diagnosis of malignant hyperthermia

British Journal of Anaesthesia

Volumn 86, Issue 2, 2001, Pages 166-168

  Robinson, R L ^a   Hopkins, P M ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CAFFEINE; DNA; HALOTHANE; RYANODINE RECEPTOR;

AMINO ACID SUBSTITUTION; ASSAY; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL PROTOCOL; DNA DETERMINATION; EDITORIAL; EUROPE; FAMILY; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; IN VITRO STUDY; LABORATORY DIAGNOSIS; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MULTIGENE FAMILY; MUSCLE CONTRACTURE; MUSCLE TISSUE; MUTANT; PATHOGENICITY; PEDIGREE; PHENOTYPE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PUBLICATION; SARCOPLASMIC RETICULUM; SCREENING TEST; STANDARDIZATION; GENETIC PREDISPOSITION; GENETIC SCREENING; METHODOLOGY; NOTE;

GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALIGNANT HYPERTHERMIA; PRACTICE GUIDELINES;

EID: 0035139859     PISSN: 00070912     EISSN: None     Source Type: Journal    
DOI: 10.1093/bja/86.2.166     Document Type: Editorial

References (16)

1. Evidence for genetic heterogeneity of malignant hyperthermia susceptibility
2. Guidelines for the molecular genetic detection of malignant hyperthermia susceptibility
3. A protocol for the investigation of malignant hyperpyrexia susceptibility
4. Malignant hyperthermia: Advances in clinical management and diagnosis
5. Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q
6. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families
7. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1
8. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
9. Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families
10. Ryanodine receptor mutations in malignant hyperthermia and central core disease
11. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect of over-expression of recombinant wild-type and Arg 163Cys mutated ryanodine receptors
12. 2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease
13. 2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia
14. 2+ release channel function and severe central core disease
15. The point mutation Arg615Cys in the calcium release channel of skeletal muscle sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia
16. Multiple interacting gene products may influence susceptibility to malignant hyperthermia