Share this post on:

54. Quane KA, Ording H, Keating KE, Manning BM, Heine R, Bendixen
54. 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 place 614 in the ryanodine receptor in PKD3 Formulation malignant hyperthermia. Br J Anaesth 1997, 79:33237. Rueffert H, Kraus H, Olthoff D, Deutrich C, Froster UG: Identification of the novel mutation during the ryanodine receptor gene (RYR1) in sufferers with malignant hyperthermia. Hum Mutat 2001, 17:238. Manning BM, Quane KA, Ording H, Urwyler A, Plasmodium MedChemExpress 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 Television: Identification of novel mutations within 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 in the whole ryanodine receptor sort 1 coding region for sequence variants associated 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: Raising the quantity of diagnostic mutations in malignant hyperthermia. Hum Mutat 2009, thirty:59098. Marchant CL, Ellis FR, Halsall PJ, Hopkins PM, Robinson RL: Mutation analysis of two individuals 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 the novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American households. Neuromuscul Disord 2001, eleven:53037. R fert H, Olthoff D, Deutrich C, Froster UG: [Current aspects of the diagnosis of malignant hyperthermia]. 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 receptor gene in 105 malignant hyperthermia families: novel mutations and concordance using the in vitro contracture check. Hum Mol Genet 1999, eight:2055062. Barone V, Massa O, Intravaia E, Bracco A, Di Martino A, Tegazzin V, Cozzolino S, Sorrentino V: Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet 1999, 36:11518.Klingler et al. Orphanet Journal of Rare Disorders 2014, 9:8 ojrd.com/content/9/1/Page 15 of46. Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy Television: Novel mutations at a CpG dinucleotide during the ryanodine receptor in malignant hyperthermia. Hum Mutat 1998, 11:450. 47. Dekomien G, Gencik M, Gencikova A, Klenk Y, Epplen JT: Gene symbol: RYR1. Disease: malignant hyperthermia. Hum Genet 2005, 118:543. 48. Jungbluth H, M ler CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E,.

Share this post on:

Author: Sodium channel