Localization of mutations within the 106 exons of your RYR1 gene in
Localization of mutations within the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat 2006, 27:830. Davis M, Brown R, Dickson A, Horton H, James D, Laing N, Marston R, Norgate M, Perlman D, Pollock N, Stowell K: Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities in addition to a novel RYR1 mutation in New Zealand and Australian pedigrees. Br J Anaesth 2002, 88:50815. Rueffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG: Mutation screening in the ryanodine receptor 1 gene (RYR1) in individuals susceptible to malignant hyperthermia who show definite IVCT outcomes: identification of 3 novel mutations. Acta Anaesthesiol Scand 2002, 46:69298. Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH: Polymorphisms and deduced amino acid substitutions within the coding sequence with the ryanodine receptor (RYR1) gene in men and women with malignant hyperthermia. Genomics 1992, 13:1247254. Quane KA, Ording H, Keating KE, Manning BM, Heine R, Bendixen D, Berg K, Krivosic-Horber R, Lehmann-Horn F, Fagerlund T, McCarthy Television: Detection of a novel mutation at amino acid position 614 within the ryanodine receptor in malignant hyperthermia. Br J Anaesth 1997, 79:33237. Rueffert H, Kraus H, Olthoff D, Deutrich C, Froster UG: Identification of a novel mutation in the ryanodine receptor gene (RYR1) in sufferers with malignant hyperthermia. Hum Mutat 2001, 17:238. Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, O’Halloran J, Hartung E, Giblin LM, Lynch PJ, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Wolz W, Heffron JJ, Muller CR, McCarthy Tv: Identification of novel mutations inside the ryanodinereceptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet 1998, 62:59909. Sambuughin N, Holley H, Muldoon S, Brandom BW, de Bantel AM, Tobin JR, Nelson TE, Goldfarb LG: Screening of your whole ryanodine receptor sort 1 coding region for sequence variants connected with malignant hyperthermia susceptibility in the north american population. Anesthesiology 2005, 102:51521. Levano S, Vukcevic M, Singer M, Matter A, Treves S, Urwyler A, Girard T: Growing the amount of diagnostic mutations in malignant hyperthermia. Hum Mutat 2009, 30:59098. Marchant CL, Ellis FR, Halsall PJ, Hopkins PM, Robinson RL: Mutation analysis of two sufferers with hypokalemic periodic paralysis and suspected malignant hyperthermia. Muscle Nerve 2004, 30:11417. Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG: Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American households.Valrubicin Neuromuscul Disord 2001, 11:53037.Abagovomab R fert H, Olthoff D, Deutrich C, Froster UG: [Current elements with the diagnosis of malignant hyperthermia].PMID:23991096 Anaesthesist 2002, 51:90413. Sambuughin N, Sei Y, Gallagher KL, Wyre HW, Madsen D, Nelson TE, Fletcher JE, Rosenberg H, Muldoon SM: North American malignant hyperthermia population: screening from the ryanodine receptor gene and identification of novel mutations. Anesthesiology 2001, 95:59499. Chamley D, Pollock NA, Stowell KM, Brown RL: Malignant hyperthermia in infancy and identification of novel RYR1 mutation. Br J Anaesth 2000, 84:50004. Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F: Screening on the ryanodine r.