Genetics and pathogenesis of malignant hyperthermia

Muscle and Nerve

Volumn 23, Issue 1, 2000, Pages 4-17

  Jurkat Rott, Karin ^a   McCarthy, Tommie ^b   Lehmann Horn, Frank ^a  

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY COLLEGE CORK   (Ireland)

Author keywords

Central core disease; Dihydropyridine receptor; Excitation contraction coupling; In vitro contracture test; Malignant hyperthermia; Ryanodine receptor

Indexed keywords

ANESTHETIC AGENT; DIHYDROPYRIDINE DERIVATIVE; RYANODINE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; AUTOSOMAL DOMINANT INHERITANCE; CALCIUM HOMEOSTASIS; CALCIUM TRANSPORT; DIAGNOSTIC ACCURACY; DISEASE TRANSMISSION; ELECTRIC POTENTIAL; EXCITATION CONTRACTION COUPLING; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; MALIGNANT HYPERTHERMIA; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MYOPATHY; NONHUMAN; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE; SWINE;

ANIMALS; HUMANS; MALIGNANT HYPERTHERMIA;

EID: 0033962064     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO;2-D     Document Type: Review

References (173)

1. Airey JA, Deerinck TJ, Ellisman MH, Houenou LJ, Ivanenko A, Kenyon JL, McKemy DD, Sutko JL. Crooked neck dwarf (cn) mutant chicken skeletal muscle cells in low density primary cultures fail to express normal alpha ryanodine receptor and exhibit a partial mutant phenotype. Dev Dynamics 1993;197:189-202.
2. Aitken HA, Howie JC. Possible malignant hyperpvrexia. Anaesthesia 1990;45:60-61.
3. 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. The North American Malignant Hyperthermia Registry of MHAUS. Anesthesiology 1998;88:579-588.
4. Andresen E. Jensen P. Close linkage established between the HAL locus for halothane sensitivity and the PHI (phosphohexose isomerase) locus in pigs of the Danish Landrace breed. Nord Vet Med 1977;11:502-504.
5. Archibald AL, Imlah P. The halothane sensitivity locus and its linkage relationships. Anim Blood Groups Biochem Gen 1985;16:253-263.
6. Ball SP, Johnson KJ. The genetics of malignant hyperthermia. J Med Genet 1993;30:89-93.
7. Barone V, Massa O, Intravaia E, Bracco A, DiMartino 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;36:115-118.
8. Baur C, Marx T, Schoch E, Froeba G, Georgieff M, Lehmann-Horn F. Xenon does not trigger MH in vitro. Br J Anaesth (in press).
9. Baur CP, Bellon L, Felleiter P, Fiege M, Fricker R, Glahn K, Heffron JJA, Herrmann-Frank A, Jurkat-Rott K, Klingler W, Lehane M, Ørding H, Tegazzin V, Wappler F, Georgieff M, Lehmann-Horn F. A multicenter study of 4-chloro-m-cresol for diagnosis of malignant hyperthermia susceptibility. Anesth Analg (in press).
10. 2+ release channels. J Gen Physiol 1997;110:749-762.
11. Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in-vitro contracture test. Hum Mol Gen (in press).
12. Britt BA. Combined anesthetic- and stress-induced malignant hyperthermia in two offspring of malignant hyperthermic-susceptible parents. Anesth Analg 1988;67:393-399.
13. Britt BA, Kalow W. Malignant hyperthermia: a statistical review. Can Anesth Soc J 1979;17:293-315.
14. Bromstrom CO, Hunkeler FL, Krebs EG. The regulation of skeletal muscle phosphorylase kinase by calcium. J Biol Chem 1971;246:1961-1967:
15. Brownell AKW, Paasuke RT, Elash A, Fowlow SB, Seagram CGF, Diewold RJ, Friesen C. Malignant hyperthermia in Duchenne muscular dystrophy. Anesthesiology 1983;58: 180-182.
16. 2+ release channel. J Biol Chem 1994;269:15876-15884.
17. 2+ release from sarcoplasmic reticulum of malignant hyperthermia susceptible pigs. Biochim Biophys Acta 1991;1064:175-183.
18. Censier K, Urwyler A, Zorzato F, Treves S. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors. J Clin Invest 1998; 101:1233-1242.
19. 2+ release channel (ryanodine receptor). Biophys J 1997;73:1904-1912.
20. 2+ release channel (ryanodine receptor) of rabbit skeletal muscle sarcoplamic reticulum. J Biol Chem 1993;268:22642-22649.
21. Chowdhary BP, Harbitz I, Makinen A, Davies W, Gustavvson I. Localization of the glucose phosphate isomerase gene to p12-q21 segment of chromosome 6 in pig by in situ hybridization. Hereditas 1989;111:73-78.
22. Coronado R, Morrissette J, Sukhareva M, Vaugham DM. Structure and function of ryanodine receptors. Am J Physiol 1994;266:C1485-C1504.
23. Davies W, Harbitz I, Fries R, Stranzinger G, Hauge JG: Porcine malignant hyperthermia carrier detection and chromosomal assignment using a linked probe. Anim Genet 1988; 19:203-212.
24. Denborough MA. Heat stroke and malignant hyperthermia. Med J Aust 1982;1:204-205.
25. Denborough MA. Sudden infant death syndrome and malignant hyperpyrexia. Med J Aust 1981;1:649-650.
26. Denborough MA, Ebeling P, King JO, Zapf P. Myopathy and malignant hyperthermia. Lancet 1970;I:1138-1140.
27. Denborough MA, Lovell RRH: Anesthetic deaths in a family. Lancet 1960;II:45.
28. Denborough MA, McLean A, Morgan G, Hopkinson KC. Fatal inherited rhabdomyolysis and malignant hyperthermia. Lancet 1994;343:236-237.
29. Dershwitz M, Sreter FA, Ryan JF. Ketamine does not trigger malignant hyperthermia in susceptible swine. Anesth Analg 1989;69:501-503.
30. Deufel T, Sudbrak R, Feist Y, Rubsam B, Du Chesne I, Schafer KL, Roewer N, Grimm T, Lehmann-Horn F, Hartung EJ, Muller CR. Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. Am J Hum Genet 1995;56:1334-1342.
31. Ebashi S. Third component participating in the supraprecipitation of natural actomyosin. Nature 1963;200:1010-1011.
32. Eikelenboom G, Minkema D. Prediction of pale, soft, exudative muscle with a non-lethal test for halothane induced porcine malignant hyperthermia syndrome. Netherlands J Vet Sci 1974;99:421-426.
33. Ellis FR, Halsall PJ, Harrison DGF. Malignant hyperthermia and sudden infant death syndrome. Br J Anaesth 1988;60: 28-30.
34. Ellis KO, Bryant SH. Excitation-contraction uncoupling in skeletal muscle by dantrolene sodium. Naunyn Schmiedebergs Arch Pharmacol 1972;274:107-109.
35. Endo M. Calcium release from the sarcoplasmic reticulum. Physiol Rev 1977;57:71-108.
36. 2+-induced calcium release mechanism in the sarcoplasmic reticulum of the muscle from a patient with malignant hyperthermia. Biomed Res 1983;4:83-92.
37. European Malignant Hyperprexia Group. A protocol for the investigation of malignant hyperprexia (MH) susceptibility. Br J Anaesth 1984;56:1267-1269.
38. Fagerlund T, Ording H, Bendixen D, Islander G, Ranklev-Twetman E, Berg K. RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. Clin Genet 1996;49:186-188.
39. Fagerlund TH, Islander G, Ranklev-Twetman E, Berg K. Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers. Clin Genet 1996;.50:455-458.
40. Fill M, Coronado R, Mickelson JR, Vilven J, Ma J, Jacobson BA, Louis CF. Abnormal ryanodine receptor channels in malignant hyperthermia. Biophys J 1990;50:471-465.
41. Fletcher JE, Mayerberger S, Tripolitis L, Yudkowsky M, Rosenberg H. Fatty acids markedly lower the threshold for halothane-induced calcium release from the terminal cisternae in human and porcine normal and malignant hyperthermia susceptible skeletal muscle. Life Sci 1991;49: 1651-1657.
42. Fletcher JE, Rosenberg H, Aggarwal M. Comparison of European and North American malignant hyperthermia diagnostic protocol outcomes for use in genetic studies. Anesthesiology 1999;90:654-661.
43. Fletcher JE, Tripolitis L, Rosenberg H, Beech J. Malignant hyperthermia: halothane- and calcium-induced calcium release in skeletal muscle. Biochem Mol Biol Int 1993;29: 763-772.
44. 2+ release by direct and specific action at skeletal muscle ryanodine receptors. J Biol Chem 1997;272:26965-26971.
45. Fujii J, Otsu K, Zorzato F, DeLeon S, Khanna VK, Weiler JE, O'Brien P, MacLennan DH. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 1991;253:448-451.
46. Gallant EM, Mickelson JR, Roggow BD, Donaldson SK, Louis CF, Rempel WE. Halothane-sensitivity gene and muscle contractile properties in malignant hyperthermia. Am J Physiol 1989;257:C781-C786.
47. Gillard EF, Otsu K, Fujii J, Duff C, DeLeon S, Khanna VK, Britt BA, Worton RG, MacLennan DH. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene and individuals with malignant hyperthermia. Genomics 1992;13:1247-1254.
48. Gillard EF, Otsu K, Fujii J, Khanna VK, DeLeon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 1991;11:751-755.
49. Gilly H, Musat I, Fricker R, Bittner RE, Steinbereithner K, Kress HG. Classification of malignant hyperthermia-equivocal patients by 4-chloro-M-cresol. Anesth Analg 1997; 85:149-154.
50. Graham GE, Silver K, Arlet V, Der Kaloustian VM. King syndrome: further clinical variability and review of the literature. Am J Med Genet 1998;78:254-259.
51. Gronert GA. Malignant Hyperthermia. In: Engel AG, Franzini-Armstrong C, editors. Myology. Vol. 2. New York: McGraw-Hill; 1994. p 1661-1678.
52. Gurrola GB, Arevalo C, Sreekumar R, Lokuta AJ, Walker JW, Valdivia HH. Activation of ryanodine receptors by imperatoxin A and a peptide segment of the II-III loop of the dihydropyridine receptor. J Biol Chem 1999;274:7879-7886.
53. Haan EA, Freemantle CJ, McCure JA, Friend KL, Mulley JC. Assignment of the gene for central core disease to chromosome 19. Hum Genet 1990;86:187-190.
54. Hagberg JM, Carroll JE, Brooke MH. Endurance exercise training in a patient with central core disease. Neurology 1980;30:1242-1244.
55. Hall LW, Woolf N, Bradley JW, Jolly DW. Unusual reaction to suxamethonium chloride. Br Mol J 1996;2:1305.
56. Harbitz L, Chowdhary B, Thomsen P, Davies W, Kaufman U, Kran S, Gustavvson I, Christensen K, Hauge J. Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11-q21 segment of chromosome 6. Genomics 1990;9:243-248.
57. Harrison GG. Porcine malignant hyperthermia. Int Anesthesiol Clin 1979;17:25-62.
58. Harrison GG. Propofol in malignant hyperthermia. Lancet 1991;337:503.
59. Hartung E, Koob M, Anetseder M, Schoemig P, Krauspe R, Hogrefe G, Engelhardt W. Malignant hyperthermia (MH) diagnostics: a comparison between the halothane-caffeine- and the ryanodine-contracture-test results in MH susceptible, normal and control muscle. Acta Anaesthesiol Scand 1996;40:437-444.
60. Hayashi K, Miller RG, Brownell AK. Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules. Muscle Nerve 1989;12:95-102.
61. Healy JMS, Quane KA, Keating KE, Lehane M, Heffron JJA., McCarthy TV. Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree. J Med Genet 1996;33: 18-24.
62. Heiman-Patterson T, Rosenberg H, Fletcher JE, Tahmoush AJ. Malignant hyperthermia in myotonia congenita. Halothane-coffeine contracture testing in neuromuscular disease. Muscle Nerve 1988;11:453-457.
63. Herrmann-Frank A, Richter M, Lehmann-Horn F. 4-Chloro-m-cresol: a specific tool to distinguish between malignant hyperthermia-susceptible and normal muscle. Biochem Pharmacol 1996;52:149-155.
64. Hogan K, Couch F, Powers PA, Gregg RG. A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia. Anesth Analg 1992;75:441-448.
65. Hopkins PM, Ellis, FR, Halsall PJ. Evidence for related myopathies in exertional heat stroke and malignant hyperthermia. Lancet 1991;338:1491-1492.
66. Hopkins PM, Ellis FR, Halsall PJ. Ryanodine contracture. A potentially specific in vitro diagnostic test for malignant hyperthermia. Br J Anaesth 1991;66:611-613.
67. Iaizzo PA, Klein W, Lehmann-Horn F. Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs. Pflügers Arch 1988;411:648-653.
68. Iles D, Lehmann-Horn F, Deufel T, Scherer SW, Tsui L-C, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G. Schwartz A, Ellis FR, Stewart AD, Wieringa B. Localization of the gene encoding the α2/δ-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet 1994;3:969-975.
69. Iles DE, Segers B, Sengers RCA, Monsieurs K, Heytens L, Halsall PJ, Hopkins PM, Ellis FR, Hall-Curran JL, Stuart AD, Wieringa B. Genetic mapping of the beta 1 and gamma subunits of the human skeletal muscle L-type voltage dependent calcium channel on chromosome 17q and exclusion as a candidate gene for malignant hyperthermia susceptibility. Hum Mol Genet 1993;2:863-868.
70. Islander G, Henriksson KG, Ranklev-Twetman E. Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed. Neuromusc Disord 1995;5:125-127.
71. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers P, Lapie P, ValeSantos JE, Weissenbach J, Fontaine B. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994;3: 1415-1419.
72. Kalow, W. Britt BA, Chan F-Y. Epidemiology and inheritance of malignant hyperthermia. Int Anesthesiol Clin 1979;17: 119-140.
73. Kalow W, Britt BA, Terreau ME, Haist C. Metabolic error of muscle metabolism after recovery from malignant hyperthermia. Lancet 1970;II:895-898.
74. Kausch K, Lehmann-Horn F, Hartung EJ, Janka M, Wieringa B, Grimm T, Müller CR. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 1991;10:765-769.
75. Kawana Y, Iino M, Horiuti K, Matsumura N, Ohta T, Matsui K, Endo M. Acceleration in calcium-induced calcium release in the biopsied muscle fibers from patients with malignant hyperthermia. Biomed Res 1992;13:287-297.
76. Keating KE, Giblin L, Lynch PJ, Quane KA, Lehane M, Heffron JJA, McCarthy TV. Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. J Med Genet 1997;34:291-296.
77. Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Müller CR, Heffron JJA, McCarthy TV. Detection of a novel RYR1 mutation in four malignant hvperthermia pedigrees. Hum Mol Genet 1994;10:1855-1858.
78. Kefler HM, Singer WD, Reynolds RN. Malignant hyperthermia in a child with Duchenne muscular dystrophy. Pediatrics 1983;71:118-119.
79. 2+ release from sarcoplasmic reticulum of normal and malignant hyperthermia susceptible pig muscles. Biochim Biophys Acta 1984;775:320-327.
80. King JO, Denhorough MA. Anesthetic-induced malignant hyperpyrexia in children. J Pediatr 1973;83:37-40.
81. King JO, Denborough MA, Zapf PW. Inheritance of malignant hyperthermia. Lancet 1972;1:365-370.
82. Kolb ME, Horne ML, Martz R. Dantrolene in human malignant hyperthermia: a multicenter study. Anesthesiology 1982;56:254-262.
83. Krivosic-Horber R, Reyfort H, Becq MC, Adnet P. Effect of propofol on the malignant hyperthermia susceptible pig model. Br J Anesth 1989;62:691-693.
84. Larach MG for the North American Malignant Hyperthermia Group. Standardization of the caffeine halothane muscle contracture test. Anesth Analg 1989;69:511-515.
85. Larach MG, Localio AR, Allen GC, Denborough MA. Ellis FR, Gronert GA, Kaplan RF, Muldoon SM, Nelson TE, Ording H. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology 1994;80:771-779.
86. 2+ release channels in malignant hyperthermia. Biophys J 1997;73:1913-1924.
87. Lebmann-Horn F, Iaizzo PA. Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? Br J Anaesth 1990;65:692-697.
88. Lehmann-Horn F, Jurkat-Rott K. Voltage-gated ion channels and hereditary disease. Physiol Rev 1999;79:1317-1371.
89. Leong P, MacLennan DH. The cytoplasmic loops between domains II and III and domains III and IV in the skeletal muscle dihydropyridine receptor bind to a contiguous site in the skeletal muscle ryanodine receptor. J Biol Chem 1998; 273;29958-29964.
90. Levitt RC. Olckers A, Meyers S, Fletcher JE, Rosenberg H, Isaacs H, Meyers DA. Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Genomic 1992;14:562-566.
91. 2+ release channels. Am J Med 1998;104:470-486.
92. Louis CF, Zualkernan K, Roghair T, Mickelson JR. The effects of volatile anesthetics on calcium regulation by malignant hyperthermia-susceptible sarcoplasmic reticulum. Anesthesiology 1992;77:114-125.
93. Lu X, Xu L, Meissner G. Activation of the skeletal muscle calcium release channel by a cytoplasmic loop of the dihydropyridine receptor. J Biol Chem 1994;269:6511-6516.
94. Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane KA, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J. Identification of heterozygous and homozygous individuals with a novel RYR1 mutation in a large kindred. Anesthesiology 1997;86:620-626.
95. 2+ release channel function and severe central core disease. Proc Natl Acad Sci U S A 1999;96:4164-4169.
96. Mabry JW, Christian LL, Kuhlers DL. Inheritance of porcine-stress syndrome. J Hered 1981;72:429-430.
97. MacKenzie AE, Allen G, Lahey D, Crossan ML, Nolan K, Mettler G, Worton RG., MacLennan DH, Korneluk R. A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia. Anesthesiology 1991;75:4-8.
98. MacKenzie AF, Korneluk RG, Zorzato F, Fujii J, Philipps M, Iles D, Wieringa B, le Blond S, Bailly J, Willard HF, Duff C, Worton RG, Mac Lennan DH. The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group and exclusion as the gene causing myotonic dystrophy. Am J Hum Genet 1990;46:1082-1089.
99. MacKenzie AJ, Couchman KG, Pollock N. Propofol is a safe anesthetic agent in malignant hyperthermia susceptible patients. Anaesth Intensive Care 1992;20:165-168.
100. MacLennan D. Discordance between phenotype and genotype in malignant hyperthermia. Curr Opin Neurol 1995;8: 397-401.
101. MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 1990;343:559-061.
102. MacLennan DH, Philipps MS. Malignant hyperthermia. Science 1992;256:789-794.
103. 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 TV. Novel mutations at a CpG dimicleotide in the ryanodine receptor in malignant hyperthermia. Hum Mutat 1998;11:45-50.
104. 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 in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet 1998;62: 599-609.
105. McCarthy TV, Healy JMS, Lehane M, Heffron JJA, Deufel T, Lehmann-Horn F, Farrall M, Johnson K. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q11.213.2. Nature 1990;343:562-563.
106. 2+ release channels and their regulation by endogenous effectors. Annu Rev Physiol 1994;56:485-508.
107. 2+ and monovalent cations and anions. J Biol Chem 1997;272:1628-1638.
108. Mickelson JR, Gallant FM, Litterer LA, Johnson KM, Rempel WK, Louis CF. Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermia. J Biol Chem 1988;263: 9310-9315.
109. 2+ regulation defects. Phys Rev 1996;76:537-592.
110. Mitchell G, Heffron JJ. The occurrence of pale, soft, exudative musculature in Landrace pigs susceptible and resistant to the malignant hyperthermia syndrome. Br Vet J 1980;136: 500-506.
111. Mitchell G, Heffron JJA. Porcine stress syndrome. Adv Food Res 1982;28:167-230.
112. Moleshi R, Langlois S, Yam I, Friedman JM. Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am J Med Genet 1998;76:21-27.
113. Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignant-hyperthermia susceptibility is associated with a mutation of the (1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 1997;60:1316-1325.
114. Mulley JC, Kozman HM, Phillips HA, Gedeon AK, McCure JA, Iles DE, Gregg RG, Hogan K, Couch FJ, MacLennan DH. Haan EA. Refined genetic localization for central core disease. Am J Hum Genet 1993;52:398-405.
115. 2+ channels. J Biol Chem 1998;273:13403-13406.
116. Nelson TF. Abnormality in calcium release from skeletal sarcoplasmic reticulum of pigs susceptible to malignant hyperthermia. J Clin Invest 1983;72:862-870.
117. Nelson TE. Halothane effects on human malignant hyperthermia skeletal muscle single calcium-release channels in planar lipid bilayers. Anesthesiology 1992;76:588-595.
118. Nelson TE, Flewellen EH. The malignant hyperthermia syndrome. N Engl J Med 1983;309:416-418.
119. O'Driscoll S, McCarthy TV, Eichinger HM, Erhardt W, Lehmann-Horn F, Herrmann-Frank A. Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant hyperthermia susceptible muscle. Biochem J 1996;319:421-426.
120. Ohkoshi N, Yoshizawa T, Mizusawa H, Shoji S, Toyama M, Iida K, Sugishita Y, Hamano K, Takagi A, Goto K. Malignant hyperthermia in a patient with Becker muscular dystrophy: dystrophin analysis and caffeine contracture study. Neuromusc Disord 1995;5:53-58.
121. Ohnishi ST. Effects of halothane, caffeine, dantrolene and tetracaine on the calcium permeability of skeletal muscle sarcoplasmic reticulum of malignant hyperthermic pigs. Biochim Biophys Acta 1987;897:261-268.
122. 2+ release from sarcoplasmic reticulum of pigs susceptible to malignant hyperthermia. The effects of halothane and dantrolene. FEBS Lett 1983;161:103-107.
123. Olckers A, Meyers DA, Meyers S, Taylor EW, Fletcher JE, Rosenberg H, Isaacs H, Levitt RC. Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility. Genomics 1992;14:829-831.
124. Ording H. Incidence of malignant hyperthermia in Denmark. Anesth Analg 1985;64:700-740.
125. Ording H, Brancadoro V, Cozzolino S, Ellis FR, Glauber V, Gonano EF, Halsall PJ, Hartung E, Heffron JJ, Heytens L, Kozak-Ribbens G, Kress H, Krivosic-Horber R, Lehmann-Horn F, Mortier W, NivocheY, Ranklev-Twetman E, Sigurdsson S, Snoeck M, Stieglitz P, Tegazzin V, Urwyler A, Wappler FH. 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.
126. Ording H, Glahn K, Gardi T, Fagerlund T, Bendixen D. 4-Chloro-m-cresol test - a possible supplementary test for diagnosis of malignant hyperthermia susceptibility. Acta Anaesthesiol Scand 1997;41:967-972.
127. Otsu K, Kahnna VK, Archibald AL, MacLennan DH. Co-segregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. Genomics 1991;11:744-750.
128. 2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. J Biol Chem 1994;269:9413-9415.
129. Parness J, Palnitkar SS. Identification of dantrolene binding sites in porcine skeletal muscle sarcoplasmic reticulum. J Biol Chem 1996;270:18465-18472.
130. Pessah IN, Schiedt MJ. Early over-expression of low-affinity [3H]ryanodine receptor sites in heavy sarcoplasmic reticulum fraction from dystrophic chicken pectoralis major. Biochim Biophys Acta 1990;1023:98-106.
131. Peterson DR, Denborough MA. Sudden infant death syndrome and malignant hyperthermia diathesis. Aust Paediatr J 1986;22:33-35.
132. Phillips M , Fujii J, Khanna VK, DeLeon S, Yokobata K, De Jong PJ, MacLennan D. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 1996;34:24-41.
133. Ptacek L, Tawil R, Griggs RC, Engel A, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, Bradley P, Leppert MF. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994;77:863-868.
134. Quane KA, Healy JMS, Keating KE, Manning BM, Couch FJ, Palmucci LM, Doriguzzi C, Fagerlund TH, Berg K, Ording H, Bendixen D, Mortier W, Linz U, Muller CR, McCarthy TV. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nature Genet 1993;5:51-55.
135. Quane KA, Keating KE, Healy JMS, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy TV. Mutation screening of the RYR1 gene in malignant hyper-thermia: detection of a novel Tyr to Ser mutation in a pedi gree with associated central cores. Genomics 1994;23: 236-239.
136. Quane KA, Keating KE, Manning BM, HealyJMS, Monsieurs K, Heffron J, Lehane M, Heytens L, Krivosic-Horber R, Adnet P, Ellis FR, Monnier N, Lunnardi J, McCarthy TV. Detection of a novel mutation in a ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet 1994;3:471-476.
137. Quane KA, Ording H, Keating KE. Manning BM, Heine R, Bendixen D, Berg K, Krivosic-Horber R, Lehmann-Horn F, Fagerlund T, McCarthy TV. Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. Br J Anaesth 1997;79:332-337.
138. Ranklev E, Henriksson KG, Fletcher R, Germundsson K, Oldfors A, Kalimo H. Clinical and muscle biopsy findings in malignant hyperthermia susceptibility. Acta Neurol Scand 1986;74:452-459.
139. Reik TR, Rempel WE, McGrath CJ, Addis PB. Further evidence on the inheritance of halothane reaction in pigs. J Anim Sci 1983;57:826-831.
140. Richter M, Schleithoff L, Deufel T, Lehmann-Horn F, Herrmann-Frank A. Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-suscepuble muscle. J Biol Chem 1997;272:5256-5260.
141. Ricker K, Moxley RT III, Heine R, Lehmann-Horn F. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol 1994;51:1095-1102.
142. Robinson R, Curran JL, Hall WJ, Halsall PJ, Hopkins PM, Markham AF, Stewart AD, West SP, Ellis FR. Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families. J Med Genet 1998;35,196-201.
143. Robinson RL, Monnier N, Wolz W, Jung M, Reis A, Nuernberg G, Curran JL, Monsieurs K, Stieglitz P, Heytens L, Fricker R, Van Broeckhoven C, Deufel T, Hopkins PM, Lunardi J, Mueller CR. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet 1997;6:953-961.
144. Saiki Y, El-Hayek R, Ikemoto N. Involvement of the Glu724-Pro760 region of the dihvdropyridine receptor II-III loop in skeletal muscle-type excitation-contraction coupling. J Biol Chem 1999;274:7825-7832.
145. Schleithoff L, Jurkat-Rott K, Sipos I, Paul S, Hang C, Kovacs L, Melzer W, Lehmann-Horn F. A novel dihydropyridine receptor mutation for malignant hyperthermia reduces calcium channel fast inactivation. Submitted to J Clin Invest.
146. Schwemmle S, Wolff K, Palmucci LM, Grimm T, Lehmann-Horn F, Hübner C, Hauser E, Iles DE, MacLennan DH, Müller CR. Multipoint mapping of the central core disease locus. Genomics 1993;17:205-207.
147. Seewald MJ, Eichinger HM, Lehmann-Horn F, Iaizzo PA. Characterization of swine susceptible to malignant hyperthermia by in vivo, in vitro and post-mortem techniques. Acta Anaesthesiol Scand 1991;35:345-349.
148. Serfas KD, Bose D, Patel L, Wrogemann K, Phillips MS, MacLennan DH, Greenberg, CR. Comparison of the segregation of the RW1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology 1996;84:322-329.
149. 2+ release channels of pigs heterozygous for malignant hyperthermia. Muscle Nerve 1995;18:1167-1176.
150. 2+; release channel. Am J Physiol 1994;267:C1253-C1261.
151. Shuaib A, Paasuke RT, Brownell KW. Central core disease. Clinical features in 13 patients. Medicine 1987;66:389-396.
152. Shy GM, Magee KR. A new congenital non-progressive myopathy. Brain 1956;79:610-621.
153. Smith L, Hampton PR. Inheritance of reaction to halothane anaesthesia in pigs. Genet Res 1977;29:287-292.
154. Strazis KP, Fox AF. Malignant hyperthermia: a review of published cases. Anesth Analg 1993;77:297-304.
155. Struk A, Lehmann-Horn F, Melzer W. Voltage-dependent calcium release in human malignant hyperthermia muscle libers. Biophys J 1998;75:2402-2410.
156. Sudbrak R, Golla A, Powers P, Gregg R, Du Chense I, Lehmann-Horn F. Deufel T. Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and the alpha 1, beta 1. gamma subunits of the dihydropyrimidine receptor calcium channel as candidates for the molecular effect. Hum Mol Genet 1993;2: 857-862.
157. Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, Van Broeckboven C, Ellis R, Heyetens L, Hartung EJ, Kozak-Ribbens G, Heilinger D, Weissenbach J, Lehmann-Horn F, Mueller CR, Deufel T, Stewart AD, Lunardi J. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. AmJ Hum Genet 1995;56:684-691.
158. Takagi A, Sunohara N, Ishihara T, Nonaka I, Sugita H. Malignant hyperthermia and related neuromuscular diseases: caffeine contracture of the skinned muscle fibers. Muscle Nerve 1983;6:510-514.
159. Takeshima H, Lino M, Takekura H, Nishi M, Kuno J, Minowa O, Takano H, Noda T. Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine receptor gene. Nature 1994;369: 556-559.
160. Takeshima H, Nishimura S, Matsumoto T, Ishida H, Kangawa K, Minamino N, Matsuo H, Ueda M, Hanaoka M, Hirose T, Numa S. Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Nature 1989;339:439-445.
161. 2+ release in myocytes from dyspedic mice lacking the type-1 ryanodine receptor. EMBO J 1995;14:2999-3006.
162. Tanabe T, Beam KG, Adams BA, Niidome T, Numa S. Regions of the skeletal muscle dihydropyridinc receptor critical for excitation-contraction coupling. Nature 1990;346: 567-569.
163. 2+ channel. Anesthesiology 1996;84:1380-1385.
164. 2+ release channels. J Biol Chem 1999;274:693-702.
165. 2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem 1997;272:26332-26339.
166. 2+ transient in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor earning a mutation associated with malignant hyperthermia. Biochem J 1994;301:661-665.
167. 2+ in the ryanodine receptor of human malignant hyperthermia. Am J Physiol 1991;261:C237-C245.
168. Vita GM. Olckers A, Jedlicka AE, George AL, Heiman-Patterson T, Rosenberg H, Fletcher JF., Levitt RC. Masseter muscle rigidity associated with glycine 1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene. Anesthesiology 1995;82:1097-1103.
169. Wappler F, Roewer N, Kochling A, Scholz J, Steinfath M, Schulte AM, Esch J. In vitro diagnosis of malignant hyperthermia susceptibility with ryanodine-induced contractures in human skeletal muscles. Anesth Analg 1996;82: 1230-1236.
170. Wedel DJ, Gammel SA, Milde JH, Iaizzo PA. Delayed onset of malignant hyperthermia induced by isoflurane and desflurane compared with halothane in susceptible swine. Anesthesiology 1993;78:1138-1144.
171. Yamazawa T. Takeshima H, Shimuta M, Lino M. A region of the ryanodine receptor critical for excitation-contraction coupling in skeletal muscle. J Biol Chem 1997;272: 8161-8164.
172. Zhang Y, Chen HS. Khanna VK, DeLeon S, Phillips MS, Schappert K, Britt BA, Brownell AKW, MacLennan DH. A mutation in the human ryanodine receptor gene associated with central core diseases. Nat Genet 1993;5:46-49.
173. 2+ channel/ryanodine receptor: modulation by endogenous effectors, drugs and disease states. Pharmacol Rev 1997;49: 1-51.