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Volumn 116, Issue 5, 2013, Pages 1078-1086

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States

Author keywords

[No Author keywords available]

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; CAFFEINE; HALOTHANE; RYANODINE RECEPTOR 1;

EID: 84876745830     PISSN: 00032999     EISSN: 15267598     Source Type: Journal    
DOI: 10.1213/ANE.0b013e31828a71ff     Document Type: Article
Times cited : (55)

References (42)
  • 1
    • 0036285579 scopus 로고    scopus 로고
    • Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: Identification of three novel mutations
    • Rueffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG. Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: Identification of three novel mutations. Acta Anaesthesiol Scand 2002;46:692-8
    • (2002) Acta Anaesthesiol Scand , vol.46 , pp. 692-698
    • Rueffert, H.1    Olthoff, D.2    Deutrich, C.3    Meinecke, C.D.4    Froster, U.G.5
  • 3
    • 14644397272 scopus 로고    scopus 로고
    • Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population
    • Sambuughin N, Holley H, Muldoon S, Brandom BW, de Bantel AM, Tobin JR, Nelson TE, Goldfarb LG. Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology 2005;102:515-21
    • (2005) Anesthesiology , vol.102 , pp. 515-521
    • Sambuughin, N.1    Holley, H.2    Muldoon, S.3    Brandom, B.W.4    De Bantel, A.M.5    Tobin, J.R.6    Nelson, T.E.7    Goldfarb, L.G.8
  • 12
    • 0024790479 scopus 로고
    • Standardization of the caffeine halothane muscle contracture test
    • North American Malignant Hyperthermia Group
    • Larach MG. Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group. Anesth Analg 1989;69:511-5
    • (1989) Anesth Analg , vol.69 , pp. 511-515
    • Larach, M.G.1
  • 13
    • 0034326318 scopus 로고    scopus 로고
    • An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
    • Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet 2000;9:2599-608
    • (2000) Hum Mol Genet , vol.9 , pp. 2599-2608
    • Monnier, N.1    Romero, N.B.2    Lerale, J.3    Nivoche, Y.4    Qi, D.5    MacLennan, D.H.6    Fardeau, M.7    Lunardi, J.8
  • 15
    • 67349228165 scopus 로고    scopus 로고
    • Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
    • Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, Muntoni F. Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2009;19: 344-7
    • (2009) Neuromuscul Disord , vol.19 , pp. 344-347
    • Jungbluth, H.1    Lillis, S.2    Zhou, H.3    Abbs, S.4    Sewry, C.5    Swash, M.6    Muntoni, F.7
  • 16
    • 33748997392 scopus 로고    scopus 로고
    • Mutations in RYR1 in malignant hyperthermia and central core disease
    • Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 2006;27:977-89
    • (2006) Hum Mutat , vol.27 , pp. 977-989
    • Robinson, R.1    Carpenter, D.2    Shaw, M.A.3    Halsall, J.4    Hopkins, P.5
  • 17
    • 0034964727 scopus 로고    scopus 로고
    • Single-Amino-Acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype
    • Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE. Single-Amino-Acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. Am J Hum Genet 2001;69: 204-8
    • (2001) Am J Hum Genet , vol.69 , pp. 204-208
    • Sambuughin, N.1    McWilliams, S.2    De Bantel, A.3    Sivakumar, K.4    Nelson, T.E.5
  • 18
    • 0036665205 scopus 로고    scopus 로고
    • Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia
    • McWilliams S, Nelson T, Sudo RT, Zapata-Sudo G, Batti M, Sambuughin N. Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. Clin Genet 2002;62:80-3
    • (2002) Clin Genet , vol.62 , pp. 80-83
    • McWilliams, S.1    Nelson, T.2    Sudo, R.T.3    Zapata-Sudo, G.4    Batti, M.5    Sambuughin, N.6
  • 19
    • 2942705812 scopus 로고    scopus 로고
    • Functional characterization of malignant hyperthermia-Associated RyR1 mutations in exon 44, using the human myotube model
    • Wehner M, Rueffert H, Koenig F, Olthoff D. Functional characterization of malignant hyperthermia-Associated RyR1 mutations in exon 44, using the human myotube model. Neuromuscul Disord 2004;14:429-37
    • (2004) Neuromuscul Disord , vol.14 , pp. 429-437
    • Wehner, M.1    Rueffert, H.2    Koenig, F.3    Olthoff, D.4
  • 21
    • 0036740040 scopus 로고    scopus 로고
    • Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: Evidence for a cluster of novel mutations in the C-Terminal region
    • Galli L, Orrico A, Cozzolino S, Pietrini V, Tegazzin V, Sorrentino V. Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: Evidence for a cluster of novel mutations in the C-Terminal region. Cell Calcium 2002;32:143-51
    • (2002) Cell Calcium , vol.32 , pp. 143-151
    • Galli, L.1    Orrico, A.2    Cozzolino, S.3    Pietrini, V.4    Tegazzin, V.5    Sorrentino, V.6
  • 27
    • 44449102630 scopus 로고    scopus 로고
    • Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots
    • Gillies RL, Bjorksten AR, Davis M, Du Sart D. Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. Anaesth Intensive Care 2008;36:391-403
    • (2008) Anaesth Intensive Care , vol.36 , pp. 391-403
    • Gillies, R.L.1    Bjorksten, A.R.2    Davis, M.3    Du Sart, D.4
  • 28
    • 52649156433 scopus 로고    scopus 로고
    • Novel ryanodine receptor mutation that may cause malignant hyperthermia
    • Kaufmann A, Kraft B, Michalek-Sauberer A, Weigl LG. Novel ryanodine receptor mutation that may cause malignant hyperthermia. Anesthesiology 2008;109:457-64
    • (2008) Anesthesiology , vol.109 , pp. 457-464
    • Kaufmann, A.1    Kraft, B.2    Michalek-Sauberer, A.3    Weigl, L.G.4
  • 31
    • 2942613693 scopus 로고    scopus 로고
    • RYR1 mutations in UK central core disease patients: More than just the C-Terminal transmembrane region of the RYR1 gene
    • Shepherd S, Ellis F, Halsall J, Hopkins P, Robinson R. RYR1 mutations in UK central core disease patients: More than just the C-Terminal transmembrane region of the RYR1 gene. J Med Genet 2004;41:e33
    • (2004) J Med Genet , vol.41
    • Shepherd, S.1    Ellis, F.2    Halsall, J.3    Hopkins, P.4    Robinson, R.5
  • 35
    • 0036840364 scopus 로고    scopus 로고
    • Presence of two different genetic traits in malignant hyperthermia families: Implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility
    • Monnier N, Krivosic-Horber R, Payen JF, Kozak-Ribbens G, Nivoche Y, Adnet P, Reyford H, Lunardi J. Presence of two different genetic traits in malignant hyperthermia families: Implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology 2002;97:1067-74
    • (2002) Anesthesiology , vol.97 , pp. 1067-1074
    • Monnier, N.1    Krivosic-Horber, R.2    Payen, J.F.3    Kozak-Ribbens, G.4    Nivoche, Y.5    Adnet, P.6    Reyford, H.7    Lunardi, J.8
  • 36
    • 0036187363 scopus 로고    scopus 로고
    • Delayed postoperative rhabdomyolysis in a patient subsequently diagnosed as malignant hyperthermia susceptible
    • McKenney KA, Holman SJ. Delayed postoperative rhabdomyolysis in a patient subsequently diagnosed as malignant hyperthermia susceptible. Anesthesiology 2002;96:764-5
    • (2002) Anesthesiology , vol.96 , pp. 764-765
    • McKenney, K.A.1    Holman, S.J.2
  • 38
    • 0031886255 scopus 로고    scopus 로고
    • Bayesian modeling of muscle biopsy contracture testing for malignant hyperthermia susceptibility
    • Loke JC, MacLennan DH. Bayesian modeling of muscle biopsy contracture testing for malignant hyperthermia susceptibility. Anesthesiology 1998;88:589-600
    • (1998) Anesthesiology , vol.88 , pp. 589-600
    • Loke, J.C.1    MacLennan, D.H.2
  • 39
    • 80052570510 scopus 로고    scopus 로고
    • A case of malignant hyperthermia captured by an anesthesia information management system
    • Maile MD, Patel RA, Blum JM, Tremper KK. A case of malignant hyperthermia captured by an anesthesia information management system. J Clin Monit Comput 2011;25:109-11
    • (2011) J Clin Monit Comput , vol.25 , pp. 109-111
    • Maile, M.D.1    Patel, R.A.2    Blum, J.M.3    Tremper, K.K.4
  • 40
    • 76249106192 scopus 로고    scopus 로고
    • Clinical presentation, treatment, and complications of malignant hyperthermia in north america from 1987 to 2006
    • Larach MG, Gronert GA, Allen GC, Brandom BW, Lehman EB. Clinical presentation, treatment, and complications of malignant hyperthermia in North America from 1987 to 2006. Anesth Analg 2010;110:498-507
    • (2010) Anesth Analg , vol.110 , pp. 498-507
    • Larach, M.G.1    Gronert, G.A.2    Allen, G.C.3    Brandom, B.W.4    Lehman, E.B.5
  • 41
    • 0031951496 scopus 로고    scopus 로고
    • The sensitivity and specificity of the caffeine-halothane contracture test, a report from the north american malignant hyperthermia registry
    • Allen GC, Larach MG, Kunselman AR. The sensitivity and specificity of the caffeine-halothane contracture test, a report from the North American Malignant Hyperthermia Registry. Anesthesiology 1998;88:579-88
    • (1998) Anesthesiology , vol.88 , pp. 579-588
    • Allen, G.C.1    Larach, M.G.2    Kunselman, A.R.3
  • 42
    • 0842327340 scopus 로고    scopus 로고
    • Similar susceptibility to halothane, caffeine and ryanodine in vitro reflects pharmacogenetic variability of malignant hyperthermia
    • Ginz HF, Girard T, Censier K, Urwyler A. Similar susceptibility to halothane, caffeine and ryanodine in vitro reflects pharmacogenetic variability of malignant hyperthermia. Eur J Anaesthesiol 2004;21:151-7
    • (2004) Eur J Anaesthesiol , vol.21 , pp. 151-157
    • Ginz, H.F.1    Girard, T.2    Censier, K.3    Urwyler, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.