Single-Amino-Acid Deletion in the RYR1 Gene, Associated with Malignant Hyperthermia Susceptibility and Unusual Contraction Phenotype

This publication has 16 references indexed in Scilit:

• Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families
  Neuromuscular Disorders, 2001
• Autosomal Dominant Canine Malignant Hyperthermia Is Caused by a Mutation in the Gene Encoding the Skeletal Muscle Calcium Release Channel (RYR1 )
  Anesthesiology, 2001
• North American Malignant Hyperthermia Population
  Anesthesiology, 2001
• An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
  Human Molecular Genetics, 2000
• A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree
  Human Molecular Genetics, 2000
• The Sensitivity and Specificity of the Caffeine-Halothane Contracture Test
  Anesthesiology, 1998
• Effects of Halothane on Mechanical Response of Skeletal Muscle from Malignant Hyperthermia Susceptible Patients
  Archives of Physiology and Biochemistry, 1998
• Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia
  Science, 1991
• Standardization of the Caffeine Halothane Muscle Contracture Test
  Anesthesia & Analgesia, 1989
• The Malignant Hyperthermia Syndrome
  New England Journal of Medicine, 1983