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Volumn 19, Issue 6, 2011, Pages

Clinical utility gene card for: Malignant hyperthermia

Author keywords

[No Author keywords available]

Indexed keywords

BLUE CONE MONOCHROMATISM; CLINICAL UTILITY GENE CARD; COLOR BLINDNESS; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; ETHNIC GROUP; GENE CLUSTER; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; SENSITIVITY AND SPECIFICITY; SHORT SURVEY; AGE; ARTICLE; BIOPSY; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; GENE FREQUENCY; GENETICS; INCIDENCE; MALIGNANT HYPERTHERMIA; MUTATION; MYOPATHY; NEUROLEPTIC MALIGNANT SYNDROME; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RESTRICTION MAPPING;

EID: 79956323637     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.248     Document Type: Short Survey
Times cited : (22)

References (29)
  • 1
    • 79956312286 scopus 로고    scopus 로고
    • European Malignant Hyperthermia Group (EMHG)
    • European Malignant Hyperthermia Group (EMHG), http://www.emhg.org.
  • 2
    • 79956311086 scopus 로고    scopus 로고
    • Malignant Hyperthermia Association of the United States (MHAUS)
    • Malignant Hyperthermia Association of the United States (MHAUS), http://www. mhaus.org.
  • 3
    • 0025186845 scopus 로고
    • Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2
    • McCarthy TV, Healy JM, Heffron JJ et al: Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 1990; 343: 562-564.
    • (1990) Nature , vol.343 , pp. 562-564
    • McCarthy, T.V.1    Healy, J.M.2    Heffron, J.J.3
  • 4
    • 0030922550 scopus 로고    scopus 로고
    • Malignant-hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage- dependent calcium-channel receptor in skeletal muscle
    • Monnier N, Procaccio V, Stieglitz P, Lunardi J: Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridinesensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 1997; 60: 1316-1325. (Pubitemid 27258063)
    • (1997) American Journal of Human Genetics , vol.60 , Issue.6 , pp. 1316-1325
    • Monnier, N.1    Procaccio, V.2    Stieglitz, P.3    Lunardi, J.4
  • 5
    • 0035145133 scopus 로고    scopus 로고
    • Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia
    • DOI 10.1093/bja/86.2.283
    • Urwyler A, Deufel T, McCarthy T, West S: Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 2001; 86: 283-287. (Pubitemid 32103424)
    • (2001) British Journal of Anaesthesia , vol.86 , Issue.2 , pp. 283-287
    • Urwyler, A.1    Deufel, T.2    McCarthy, T.3    West, S.4
  • 6
    • 0034087446 scopus 로고    scopus 로고
    • Ryanodine receptor mutations in malignant hyperthermia and central core disease
    • DOI 10.1 002/(SI CI)1098-10 04(20000 5)15:5<41 0::AID-HUM U2>3.0.CO;2-D
    • McCarthy TV, Quane KA, Lynch PJ: Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000; 15: 410-417. (Pubitemid 30331213)
    • (2000) Human Mutation , vol.15 , Issue.5 , pp. 410-417
    • McCarthy, T.V.1    Quane, K.A.2    Lynch, P.J.3
  • 7
    • 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
    • DOI 10.1097/00000542-200503000-00007
    • Sambuughin N, Holley H, Muldoon S et al: 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: 515-521. (Pubitemid 40315139)
    • (2005) Anesthesiology , vol.102 , Issue.3 , 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
  • 8
    • 0035096493 scopus 로고    scopus 로고
    • Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia
    • DOI 10.1034/j.1399-0004.2001.590306.x
    • Stewart SL, Hogan K, Rosenberg H, Fletcher JE: Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clin Genet 2001; 59: 178-184. (Pubitemid 32229773)
    • (2001) Clinical Genetics , vol.59 , Issue.3 , pp. 178-184
    • Stewart, S.L.1    Hogan, K.2    Rosenberg, H.3    Fletcher, J.4
  • 10
    • 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
    • DOI 10.1034/j.1399-6576.2002.460610.x
    • Rueffert H, Olthoff D, Deutrich C et al: 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: 692-698. (Pubitemid 34628043)
    • (2002) Acta Anaesthesiologica Scandinavica , vol.46 , Issue.6 , pp. 692-698
    • Rueffert, H.1    Olthoff, D.2    Deutrich, C.3    Meinecke, C.D.4    Froster, U.G.5
  • 11
    • 63749119748 scopus 로고    scopus 로고
    • Increasing the number of diagnostic mutations in malignant hyperthermia
    • Levano S, Vukcevic M, Singer M et al: Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat 2009; 30: 590-598.
    • (2009) Hum Mutat , vol.30 , pp. 590-598
    • Levano, S.1    Vukcevic, M.2    Singer, M.3
  • 12
    • 43849099330 scopus 로고    scopus 로고
    • Molecular genetic testing to diagnose malignant hyperthermia susceptibility
    • DOI 10.1016/j.jclinane.2007.12.011, PII S0952818008000524
    • Girard T, Litman RS: Molecular genetic testing to diagnose malignant hyperthermia susceptibility. J Clin Anesth 2008; 20: 161-163. (Pubitemid 351698115)
    • (2008) Journal of Clinical Anesthesia , vol.20 , Issue.3 , pp. 161-163
    • Girard, T.1    Litman, R.S.2
  • 13
    • 44449103636 scopus 로고    scopus 로고
    • DNA analysis and malignant hyperthermia susceptibility
    • Stowell KM, Pollock N: DNA analysis and malignant hyperthermia susceptibility. Anaesth Intensive Care 2008; 36: 305-307.
    • (2008) Anaesth Intensive Care , vol.36 , pp. 305-307
    • Stowell, K.M.1    Pollock, N.2
  • 14
    • 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
    • DOI 10.1097/00000542-200211000-00007
    • Monnier N, Krivosic-Horber R, Payen JF et al: Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology 2002; 97: 1067-1074. (Pubitemid 35265557)
    • (2002) Anesthesiology , vol.97 , Issue.5 , 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
  • 15
    • 0021813534 scopus 로고
    • Incidence of malignant hyperthermia in Denmark
    • Ording H: Incidence of malignant hyperthermia in Denmark. Anesth Analg 1985; 64: 700-704. (Pubitemid 15064913)
    • (1985) Anesthesia and Analgesia , vol.64 , Issue.7 , pp. 700-704
    • Ording, H.1
  • 16
    • 70349573495 scopus 로고    scopus 로고
    • Prevalence of malignant hyperthermia due to anesthesia in New York State, 2001-2005
    • Brady JE, Sun LS, Rosenberg H, Li G: Prevalence of malignant hyperthermia due to anesthesia in New York State, 2001-2005. Anesth Analg 2009; 109: 1162-1166.
    • (2009) Anesth Analg , vol.109 , pp. 1162-1166
    • Brady, J.E.1    Sun, L.S.2    Rosenberg, H.3    Li, G.4
  • 17
    • 9844240499 scopus 로고    scopus 로고
    • 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 subjects
    • The European Malignant Hyperthermia Group
    • Ording H, Brancadoro V, Cozzolino S et al: 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 subjects. The European Malignant Hyperthermia Group. Acta Anaesthesiol Scand 1997; 41: 955-966.
    • (1997) Acta Anaesthesiol Scand , vol.41 , pp. 955-966
    • Ording, H.1    Brancadoro, V.2    Cozzolino, S.3
  • 19
    • 77951979944 scopus 로고    scopus 로고
    • Anesthesia for patients with a history of malignant hyperthermia
    • Wappler F: Anesthesia for patients with a history of malignant hyperthermia. Curr Opin Anaesthesiol 2010; 23: 417-422.
    • (2010) Curr Opin Anaesthesiol , vol.23 , pp. 417-422
    • Wappler, F.1
  • 21
  • 22
    • 77950517340 scopus 로고    scopus 로고
    • Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    • Zhou H, Lillis S, Loy RE et al: Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2010; 20: 166-173.
    • (2010) Neuromuscul Disord , vol.20 , pp. 166-173
    • Zhou, H.1    Lillis, S.2    Loy, R.E.3
  • 23
    • 78249290502 scopus 로고    scopus 로고
    • RYR1 mutations are a common cause of congenital myopathies with central nuclei
    • Wilmshurst JM, Lillis S, Zhou H et al: RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010; 68: 717-726.
    • (2010) Ann Neurol , vol.68 , pp. 717-726
    • Wilmshurst, J.M.1    Lillis, S.2    Zhou, H.3
  • 24
    • 44649184084 scopus 로고    scopus 로고
    • Congenital muscle disorders with cores: The ryanodine receptor calcium channel paradigm
    • Treves S, Jungbluth H, Muntoni F, Zorzato F: Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 2008; 8: 319-326.
    • (2008) Curr Opin Pharmacol , vol.8 , pp. 319-326
    • Treves, S.1    Jungbluth, H.2    Muntoni, F.3    Zorzato, F.4
  • 25
  • 26
    • 70350459096 scopus 로고    scopus 로고
    • Genetic variation in RYR1and malignant hyperthermia phenotypes
    • Carpenter D, Robinson RL, Quinnell RJ et al: Genetic variation in RYR1and malignant hyperthermia phenotypes. Br J Anaesth 2009; 103: 538-548.
    • (2009) Br J Anaesth , vol.103 , pp. 538-548
    • Carpenter, D.1    Robinson, R.L.2    Quinnell, R.J.3
  • 27
    • 33645796192 scopus 로고    scopus 로고
    • Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multiminicore disease and central core disease, expressed in immortalized lymphocytes
    • Ducreux S, Zorzato F, Ferreiro A et al: Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multiminicore disease and central core disease, expressed in immortalized lymphocytes. Biochem J 2006; 395: 259-266.
    • (2006) Biochem J , vol.395 , pp. 259-266
    • Ducreux, S.1    Zorzato, F.2    Ferreiro, A.3
  • 28
    • 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: 511-515.
    • (1989) Anesth Analg , vol.69 , pp. 511-515
    • Larach, M.G.1
  • 29
    • 79959305039 scopus 로고    scopus 로고
    • Malignant hyperthermia susceptibility
    • Baskin P, Pagan R (ed)
    • Rosenberg H, Dirksen RA, Sambuughin N: Malignant hyperthermia susceptibility; in Baskin P, Pagan R (ed): GeneReviews, http://www.genetests. org.
    • GeneReviews
    • Rosenberg, H.1    Dirksen, R.A.2    Sambuughin, N.3


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