Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families
- 1 September 2001
- journal article
- Published by Elsevier in Neuromuscular Disorders
- Vol. 11 (6-7) , 530-537
- https://doi.org/10.1016/s0960-8966(01)00202-4
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low‐risk subjectsActa Anaesthesiologica Scandinavica, 1997
- A Clinical Grading Scale to Predict Malignant Hyperthermia SusceptibilityAnesthesiology, 1994
- Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studiesHuman Molecular Genetics, 1994
- Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermiaGenomics, 1992
- A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermiaGenomics, 1991
- Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2Nature, 1990
- Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermiaNature, 1990
- Standardization of the Caffeine Halothane Muscle Contracture TestAnesthesia & Analgesia, 1989
- A PROTOCOL FOR THE INVESTIGATION OF MALIGNANT HYPERPYREXIA (MH) SUSCEPTIBILITYBritish Journal of Anaesthesia, 1984
- The Malignant Hyperthermia SyndromeNew England Journal of Medicine, 1983