Malignant hyperthermia: a review

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages 1-19

  Rosenberg, Henry ^a   Pollock, Neil ^b   Schiemann, Anja ^c   Bulger, Terasa ^b   Stowell, Kathryn ^c  

^a SAINT BARNABAS MEDICAL CENTER   (United States)

^b PALMERSTON NORTH HOSPITAL   (New Zealand)

^c MASSEY UNIVERSITY   (New Zealand)

Author keywords

Anesthesia; Malignant Hyperthermia; Ryanodine receptor

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; CELL PROTEIN; COMPLEMENTARY DNA; CREATINE KINASE; DANTROLENE; GENOMIC DNA; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; JP 45 PROTEIN; RYANODINE RECEPTOR 1; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; SUXAMETHONIUM; TRANSIENT RECEPTOR POTENTIAL CHANNEL; UNCLASSIFIED DRUG;

ANESTHESIA; ARTICLE; BIOINFORMATICS; BODY TEMPERATURE MONITORING; CALCIUM CELL LEVEL; CALCIUM DEPLETION; CALCIUM TRANSPORT; CENTRAL CORE DISEASE; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; CORE TEMPERATURE; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE COURSE; DISSEMINATED INTRAVASCULAR CLOTTING; DNA DETERMINATION; DNA SEQUENCE; DRUG EFFICACY; DRUG MECHANISM; END TIDAL CARBON DIOXIDE TENSION; EXERCISE; GENETIC COUNSELING; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERKALEMIA; INCIDENCE; INDUCED HYPOTHERMIA; INTRAVENOUS ANESTHESIA; KING DENBOROUGH MYOPATHY; LABORATORY DIAGNOSIS; MALIGNANT HYPERTHERMIA; MASSETER MUSCLE; MASSETER MUSCLE RIGIDITY; METABOLIC ACIDOSIS; MINIMALLY INVASIVE PROCEDURE; MULTIMINICORE DISEASE; MUSCLE CONTRACTURE; MUSCLE RIGIDITY; MYOPATHY; NEXT GENERATION SEQUENCING; NONHUMAN; PATHOGENICITY; PATIENT MONITORING; POSTOPERATIVE PERIOD; PREOPERATIVE EVALUATION; PREVALENCE; REPEATED DRUG DOSE; RESPIRATORY ACIDOSIS; RHABDOMYOLYSIS; RISK FACTOR; RYR1 GENE; SARCOPLASMIC RETICULUM; SENSITIVITY AND SPECIFICITY; SKELETAL MUSCLE; STRESS; THERAPEUTIC HYPERVENTILATION; TREATMENT CONTRAINDICATION; GENETICS; PATHOPHYSIOLOGY;

GENETIC COUNSELING; HUMANS; MALIGNANT HYPERTHERMIA;

EID: 84938510626     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0310-1     Document Type: Article

References (206)

1. Halliday NJ. Malignant hyperthermia. J Craniofac Surg. 2003;14(5):800-2.
2. Ording H. Incidence of malignant hyperthermia in Denmark. Anesth Analg. 1985;64(7):700-4.
3. Riazi S, Larach MG, Hu C, Wijeysundera D, Massey C, Kraeva N. Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. Anesth Analg. 2014;118(2):381-7.
4. 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(4):1162-6.
5. Strazis KP, Fox AW. Malignant hyperthermia: a review of published cases. Anesth Analg. 1993;77(2):297-304.
6. Chamley D, Pollock NA, Stowell KM, Brown RL. Malignant hyperthermia in infancy and identification of novel RYR1 mutation. Br J Anaesth. 2000;84(4):500-4.
7. Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, et al. Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013;119(5):1043-53.
8. Mauritz W, Hackl W, Winkler M, Sporn P, Steinbereithner K. Anesthesia in malignant hyperthermia susceptible patients. Acta Anaesthesiol Belg. 1990;41(2):87-94.
9. Robinson RL, Curran JL, Ellis FR, Halsall PJ, Hall WJ, Hopkins PM, et al. Multiple interacting gene products may influence susceptibility to malignant hyperthermia. Ann Hum Genet. 2000;64(Pt 4):307-20.
10. Bachand M, Vachon N, Boisvert M, Mayer FM, Chartrand D. Clinical reassessment of malignant hyperthermia in Abitibi-Temiscamingue. Can J Anaesth. 1997;44(7):696-701.
11. Ibarra MC, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, et al. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006;104(6):1146-54.
12. Britt BA. Malignant hyperthermia. Can Anaesth Soc J. 1985;32(6):666-78.
13. Litman RS, Flood CD, Kaplan RF, Kim YL, Tobin JR. Postoperative malignant hyperthermia: an analysis of cases from the North American Malignant Hyperthermia Registry. Anesthesiology. 2008;109(5):825-9.
14. Larach MG, Allen GC, Brandom BW, Lehman EB. Temperature changes are not late signs of malignant hyperthermia: A NAMH Registry of MHAUS study. Anesthesiology. 2008;109:A374.
15. Sessler DI. Temperature monitoring and perioperative thermoregulation. Anesthesiology. 2008;109(2):318-38.
16. Pollock AN, Langton EE, Couchman K, Stowell KM, Waddington M. Suspected malignant hyperthermia reactions in New Zealand. Anaesth Intensive Care. 2002;30(4):453-61.
17. Karan SM, Crowl F, Muldoon SM. Malignant hyperthermia masked by capnographic monitoring. Anesth Analg. 1994;78(3):590-2.
18. Nelson TE. Porcine malignant hyperthermia: critical temperatures for in vivo and in vitro responses. Anesthesiology. 1990;73(3):449-54.
19. Fierobe L, Nivoche Y, Mantz J, Elalaoui Y, Veber B, Desmonts JM. Perioperative severe rhabdomyolysis revealing susceptibility to malignant hyperthermia. Anesthesiology. 1998;88(1):263-5.
20. McKenney KA, Holman SJ. Delayed postoperative rhabdomyolysis in a patient subsequently diagnosed as malignant hyperthermia susceptible. Anesthesiology. 2002;96(3):764-5.
21. Lehmann-Horn F, Iaizzo PA. Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? Br J Anaesth. 1990;65(5):692-7.
22. Burns AP, Hopkins PM, Hall G, Pusey CD. Rhabdomyolysis and acute renal failure in unsuspected malignant hyperpyrexia. Q J Med. 1993;86(7):431-4.
23. Larach MG, Brandom BW, Allen GC, Gronert GA, Lehman EB. Malignant hyperthermia deaths related to inadequate temperature monitoring, 2007-2012: a report from the North American malignant hyperthermia registry of the malignant hyperthermia association of the United States. Anesth Analg. 2014;119(6):1359-66.
24. Hopkins PM. Malignant hyperthermia: advances in clinical management and diagnosis. Br J Anaesth. 2000;85(1):118-28.
25. Bomberg H, Glas M, Groesdonk VH, Bellgardt M, Schwarz J, Volk T, et al. A novel device for target controlled administration and reflection of desflurane - the Mirus. Anaesthesia. 2014;69(11):1241-50.
26. Bosel J, Purrucker JC, Nowak F, Renzland J, Schiller P, Perez EB, et al. Volatile isoflurane sedation in cerebrovascular intensive care patients using AnaConDa®: effects on cerebral oxygenation, circulation, and pressure. Intensive Care Med. 2012;38(12):1955-64.
27. Meyer JU, Kullik G, Wruck N, Kuck K, Manigel J. Advanced technologies and devices for inhalational anesthetic drug dosing. Handb Exp Pharmacol. 2008;182:451-70.
28. Rohm KD, Wolf MW, Schollhorn T, Schellhaass A, Boldt J, Piper SN. Short-term sevoflurane sedation using the Anaesthetic Conserving Device after cardiothoracic surgery. Intensive Care Med. 2008;34(9):1683-9.
29. Gonzalez-Rodriguez R, Munoz Martinez A, Galan Serrano J, Moral Garcia MV. Health worker exposure risk during inhalation sedation with sevoflurane using the (AnaConDa®) anaesthetic conserving device. Rev Esp Anestesiol Reanim. 2014;61(3):133-9.
30. Johannsen S, Mögele S, Roewer N, Schuster F. Malignant hyperthermia on ICU - sudden attack of the "snake". BMC Anesthesiol. 2014;14:A11.
31. Schwartz L, Rockoff MA, Koka BV. Masseter spasm with anesthesia: incidence and implications. Anesthesiology. 1984;61(6):772-5.
32. Lazzell VA, Carr AS, Lerman J, Burrows FA, Creighton RE. The incidence of masseter muscle rigidity after succinylcholine in infants and children. Can J Anaesth. 1994;41(6):475-9.
33. O'Flynn RP, Shutack JG, Rosenberg H, Fletcher JE. Masseter muscle rigidity and malignant hyperthermia susceptibility in pediatric patients. An update on management and diagnosis. Anesthesiology. 1994;80(6):1228-33.
34. Broman M, Islander G, Muller CR, Ranklev-Twetman E. Malignant hyperthermia and central core disease causative mutations in Swedish patients. Acta Anaesthesiol Scand. 2007;51(1):50-3.
35. Jungbluth H, Sewry CA, Muntoni F. Core myopathies. Semin Pediatr Neurol. 2011;18(4):239-49.
36. Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, et al. Central core disease: clinical, pathological, and genetic features. Arch Dis Child. 2003;88(12):1051-5.
37. Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, et al. Central core disease is due to RYR1 mutations in more than 90 % of patients. Brain. 2006;129(Pt 6):1470-80.
38. Jungbluth H. Central core disease. Orphanet J Rare Dis. 2007;2:25.
39. Wei L, Dirksen RT. Ryanodinopathies: RyR-Linked Muscle Diseases. Curr Top Membr. 2010;66:139-67.
40. Ducreux S, Zorzato F, Ferreiro A, Jungbluth H, Muntoni F, Monnier N, et al. Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. Biochem J. 2006;395(2):259-66.
41. King JO, Denborough MA. Anesthetic-induced malignant hyperpyrexia in children. J Pediatr. 1973;83(1):37-40.
42. D'Arcy CE, Bjorksten A, Yiu EM, Bankier A, Gillies R, McLean CA, et al. King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. Neurology. 2008;71(10):776-7.
43. Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, et al. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2011;21(6):420-7.
44. Hopkins PM. Malignant hyperthermia: pharmacology of triggering. Br J Anaesth. 2011;107(1):48-56.
45. Jiang D, Chen W, Xiao J, Wang R, Kong H, Jones PP, et al. Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia. J Biol Chem. 2008;283(30):20813-20.
46. Sambuughin N, Holley H, Muldoon S, Brandom BW, de Bantel AM, Tobin JR, 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(3):515-21.
47. Bleunven C, Treves S, Jinyu X, Leo E, Ronjat M, De Waard M, et al. SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling. Biochem J. 2008;411(2):343-9.
48. Treves S, Vukcevic M, Griesser J, Armstrong CF, Zhu MX, Zorzato F. Agonist-activated Ca2+ influx occurs at stable plasma membrane and endoplasmic reticulum junctions. J Cell Sci. 2010;123(Pt 23):4170-81.
49. Stamboulian S, Moutin MJ, Treves S, Pochon N, Grunwald D, Zorzato F, et al. Junctate, an inositol 1,4,5-triphosphate receptor associated protein, is present in rodent sperm and binds TRPC2 and TRPC5 but not TRPC1 channels. Dev Biol. 2005;286(1):326-37.
50. Woo JS, do Kim H, Allen PD, Lee EH. TRPC3-interacting triadic proteins in skeletal muscle. Biochem J. 2008;411(2):399-405.
51. Goonasekera SA, Beard NA, Groom L, Kimura T, Lyfenko AD, Rosenfeld A, et al. Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation contraction coupling. J Gen Physiol. 2007;130(4):365-78.
52. Lueck JD, Rossi AE, Thornton CA, Campbell KP, Dirksen RT. Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle. J Gen Physiol. 2010;136(6):597-613.
53. Missiaen L, Robberecht W, van den Bosch L, Callewaert G, Parys JB, Wuytack F, et al. Abnormal intracellular Ca2+ homeostasis and disease. Cell Calcium. 2000;28(1):1-21.
54. Golini L, Chouabe C, Berthier C, Cusimano V, Fornaro M, Bonvallet R, et al. Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle. J Biol Chem. 2011;286(51):43717-25.
55. Lee EH, Rho SH, Kwon SJ, Eom SH, Allen PD, Kim do H. N-terminal region of FKBP12 is essential for binding to the skeletal ryanodine receptor. J Biol Chem. 2004;279(25):26481-8.
56. Zhu X, Ghanta J, Walker JW, Allen PD, Valdivia HH. The calmodulin binding region of the skeletal ryanodine receptor acts as a self-modulatory domain. Cell Calcium. 2004;35(2):165-77.
57. Pritchard TJ, Kranias EG. Junctin and the histidine-rich Ca2+ binding protein: potential roles in heart failure and arrhythmogenesis. J Physiol. 2009;587(Pt 13):3125-33.
58. Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, et al. The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet. 2009;10:104.
59. Monnier N, Krivosic-Horber R, Payen JF, Kozak-Ribbens G, Nivoche Y, Adnet P, 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(5):1067-74.
60. Weiss RG, O'Connell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT. Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling. Am J Physiol Cell Physiol. 2004;287(4):C1094-102.
61. Protasi F, Paolini C, Dainese M. Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke. J Physiol. 2009;587(Pt 13):3095-100.
62. Dainese M, Quarta M, Lyfenko AD, Paolini C, Canato M, Reggiani C, et al. Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice. FASEB J. 2009;23(6):1710-20.
63. Protasi F, Paolini C, Canato M, Reggiani C, Quarta M. Lessons from calsequestrin-1 ablation in vivo: much more than a Ca2+ buffer after all. J Muscle Res Cell Motil. 2011;32(4-5):257-70.
64. Capacchione JF, Sambuughin N, Bina S, Mulligan LP, Lawson TD, Muldoon SM. Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms. Anesthesiology. 2010;112(1):239-44.
65. Kraeva N, Zvaritch E, Frodis W, Sizova O, Kraev A, MacLennan DH, et al. CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population. Anesthesiology. 2013;118(2):344-9.
66. Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, et al. Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am J Med Genet A. 2008;146A(14):1832-41.
67. Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, et al. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun. 2013;4:1952.
68. Nelson BR, Wu F, Liu Y, Anderson DM, McAnally J, Lin W, et al. Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility. Proc Natl Acad Sci U S A. 2013;110(29):11881-6.
69. Polster A, Perni S, Bichraoui H, Beam KG. Stac adaptor proteins regulate trafficking and function of muscle and neuronal L-type Ca2+ channels. Proc Natl Acad Sci U S A. 2015;112(2):602-6.
70. Anderson AA, Altafaj X, Zheng Z, Wang ZM, Delbono O, Ronjat M, et al. The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1. J Cell Sci. 2006;119(Pt 10):2145-55.
71. Yasuda T, Delbono O, Wang ZM, Messi ML, Girard T, Urwyler A, et al. JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. Hum Mutat. 2013;34(1):184-90.
72. Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006;27(10):977-89.
73. 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(22):1651-7.
74. 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(4):763-72.
75. Chaube R, Hess DT, Wang YJ, Plummer B, Sun QA, Laurita K, et al. Regulation of the skeletal muscle ryanodine receptor/Ca2+-release channel RyR1 by S-palmitoylation. J Biol Chem. 2014;289(12):8612-9.
76. Andersson DC, Betzenhauser MJ, Reiken S, Umanskaya A, Shiomi T, Marks AR. Stress-induced increase in skeletal muscle force requires protein kinase A phosphorylation of the ryanodine receptor. J Physiol. 2012;590(Pt 24):6381-7.
77. Suko J, Maurer-Fogy I, Plank B, Bertel O, Wyskovsky W, Hohenegger M, et al. Phosphorylation of serine 2843 in ryanodine receptor-calcium release channel of skeletal muscle by cAMP-, cGMP- and CaM-dependent protein kinase. Biochim Biophys Acta. 1993;1175(2):193-206.
78. Yuchi Z, Lau K, Van Petegem F. Disease mutations in the ryanodine receptor central region: crystal structures of a phosphorylation hot spot domain. Structure (London, England: 1993). 2012;20(7):1201-11.
79. Aracena P, Sanchez G, Donoso P, Hamilton SL, Hidalgo C. S-glutathionylation decreases Mg2+ inhibition and S-nitrosylation enhances Ca2+ activation of RyR1 channels. J Biol Chem. 2003;278(44):42927-35.
80. Bellinger AM, Reiken S, Carlson C, Mongillo M, Liu X, Rothman L, et al. Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. Nat Med. 2009;15(3):325-30.
81. Vita GM, Olckers A, Jedlicka AE, George AL, Heiman-Patterson T, Rosenberg H, et al. Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene. Anesthesiology. 1995;82(5):1097-103.
82. Wieland SJ, Fletcher JE, Rosenberg H, Gong QH. Malignant hyperthermia: slow sodium current in cultured human muscle cells. Am J Physiol. 1989;257(4 Pt 1):C759-65.
83. Duke AM, Hopkins PM, Calaghan SC, Halsall JP, Steele DS. Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. J Biol Chem. 2010;285(33):25645-53.
84. Gonzalez Narvaez AA, Castillo A. Ca2+ store determines gating of store operated calcium entry in mammalian skeletal muscle. J Muscle Res Cell Motil. 2007;28(2-3):105-13.
85. Yarotskyy V, Dirksen RT. Temperature and RyR1 regulate the activation rate of store-operated Ca2+ entry current in myotubes. Biophys J. 2012;103(2):202-11.
86. Dirksen RT. Checking your SOCCs and feet: the molecular mechanisms of Ca2+ entry in skeletal muscle. J Physiol. 2009;587(Pt 13):3139-47.
87. Bannister RA, Pessah IN, Beam KG. The skeletal L-type Ca2+ current is a major contributor to excitation-coupled Ca2+ entry. J Gen Physiol. 2009;133(1):79-91.
88. Wei-Lapierre L, Carrell EM, Boncompagni S, Protasi F, Dirksen RT. Orai1-dependent calcium entry promotes skeletal muscle growth and limits fatigue. Nat Commun. 2013;4:2805.
89. Lee KJ, Woo JS, Hwang JH, Hyun C, Cho CH, Kim do H, et al. STIM1 negatively regulates Ca2+ release from the sarcoplasmic reticulum in skeletal myotubes. Biochem J. 2013;453(2):187-200.
90. Eltit JM, Ding X, Pessah IN, Allen PD, Lopez JR. Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia. FASEB J. 2013;27(3):991-1000.
91. Brini M, Manni S, Pierobon N, Du GG, Sharma P, MacLennan DH, et al. Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations. J Biol Chem. 2005;280(15):15380-9.
92. Du GG, Oyamada H, Khanna VK, MacLennan DH. Mutations to Gly2370, Gly2373 or Gly2375 in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+-release channel (ryanodine receptor isoform 1). Biochem J. 2001;360(Pt 1):97-105.
93. Roesl C, Sato K, Schiemann A, Pollock N, Stowell KM. Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. Cell Calcium. 2014;56(3):195-201.
94. Sato K, Pollock N, Stowell KM. Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA. Anesthesiology. 2010;112(6):1350-4.
95. Sato K, Roesl C, Pollock N, Stowell KM. Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. Anesthesiology. 2013;119(1):111-8.
96. Yang T, Ta TA, Pessah IN, Allen PD. Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem. 2003;278(28):25722-30.
97. Buck ED, Nguyen HT, Pessah IN, Allen PD. Dyspedic mouse skeletal muscle expresses major elements of the triadic junction but lacks detectable ryanodine receptor protein and function. J Biol Chem. 1997;272(11):7360-7.
98. Chelu MG, Goonasekera SA, Durham WJ, Tang W, Lueck JD, Riehl J, et al. Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J. 2006;20(2):329-30.
99. Bannister RA, Esteve E, Eltit JM, Pessah IN, Allen PD, Lopez JR, et al. A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels. J Gen Physiol. 2010;135(6):629-40.
100. Esteve E, Eltit JM, Bannister RA, Liu K, Pessah IN, Beam KG, et al. A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR. J Gen Physiol. 2010;135(6):619-28.
101. Barrientos GC, Feng W, Truong K, Matthaei KI, Yang T, Allen PD, et al. Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. J Biol Chem. 2012;287(4):2863-76.
102. De Crescenzo V, Fogarty KE, Lefkowitz JJ, Bellve KD, Zvaritch E, MacLennan DH, et al. Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype. Proc Natl Acad Sci U S A. 2012;109(2):610-5.
103. Andronache Z, Hamilton SL, Dirksen RT, Melzer W. A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice. Proc Natl Acad Sci U S A. 2009;106(11):4531-6.
104. Yang T, Riehl J, Esteve E, Matthaei KI, Goth S, Allen PD, et al. Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. Anesthesiology. 2006;105(6):1164-75.
105. Zvaritch E, Depreux F, Kraeva N, Loy RE, Goonasekera SA, Boncompagni S, et al. An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line. Proc Natl Acad Sci U S A. 2007;104(47):18537-42.
106. Malandrini A, Orrico A, Gaudiano C, Gambelli S, Galli L, Berti G, et al. Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia. Anesthesiology. 2008;109(4):625-8.
107. Larach MG, Localio AR, Allen GC, Denborough MA, Ellis FR, Gronert GA, et al. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology. 1994;80(4):771-9.
108. A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group. British Journal of Anaesthesia. 1984; 56(11):1267-9.
109. Larach MG, Landis JR, Bunn JS, Diaz M. Prediction of malignant hyperthermia susceptibility in low-risk subjects. An epidemiologic investigation of caffeine halothane contracture responses. The North American Malignant Hyperthermia Registry. Anesthesiology. 1992;76(1):16-27.
110. Ording H, Brancadoro V, Cozzolino S, Ellis FR, Glauber V, Gonano EF, 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(8):955-66.
111. 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(3):579-88.
112. Ording H, Bendixen D. Sources of variability in halothane and caffeine contracture tests for susceptibility to malignant hyperthermia. Eur J Anaesthesiol. 1992;9(5):367-76.
113. Islander G, Ranklev TE. Results of in vitro contracture tests for the diagnosis of malignant hyperthermia susceptibility in monozygote twins. Acta Anaesthesiol Scand. 1997;41(6):731-5.
114. Endo M, Yagi S, Ishizuka T, Horiuti K, Koga Y, Amaha K. Changes in the Ca-induced Ca release mechanism in the sarcoplasmic reticulum of the muscle from a patient with malignant hyperthermia. Biomed Res. 1983;4:83-92.
115. Bendahan D, Guis S, Monnier N, Kozak-Ribbens G, Lunardi J, Ghattas B, et al. Comparative analysis of in vitro contracture tests with ryanodine and a combination of ryanodine with either halothane or caffeine: a comparative investigation in malignant hyperthermia. Acta Anaesthesiol Scand. 2004;48(8):1019-27.
116. Baur CP, Bellon L, Felleiter P, Fiege M, Fricker R, Glahn K, et al. A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility. Anesth Analg. 2000;90(1):200-5.
117. Johannsen S, Klingler W, Schneiderbanger D, Heiderich S, Roewer N, Schuster F. Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. Acta Anaesthesiol Scand. 2013;57(9):1161-6.
118. Payen JF, Bosson JL, Bourdon L, Jacquot C, Le Bas JF, Stieglitz P, et al. Improved noninvasive diagnostic testing for malignant hyperthermia susceptibility from a combination of metabolites determined in vivo with 31P-magnetic resonance spectroscopy. Anesthesiology. 1993;78(5):848-55.
119. Metterlein T, Schuster F, Kranke P, Roewer N, Anetseder M. Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. Expert Opinion Medical Diagn. 2010;4(2):149-58.
120. ClinVar-National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/clinvar/. Accessed 10 July 2015.
121. Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, et al. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol. 2011;37(3):271-84.
122. Duarte ST, Oliveira J, Santos R, Pereira P, Barroso C, Conceicao I, et al. Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. Muscle Nerve. 2011;44(1):102-8.
123. Ghassemi F, Vukcevic M, Xu L, Zhou H, Meissner G, Muntoni F, et al. A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium. 2009;45(2):192-7.
124. Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, et al. Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006;15(18):2791-803.
125. McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat. 2000;15(5):410-7.
126. Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, et al. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Hum Mutat. 2002;20(2):88-97.
127. Stowell KM. DNA testing for malignant hyperthermia: the reality and the dream. Anesth Analg. 2014;118(2):397-406.
128. Broman M, Kleinschnitz I, Bach JE, Rost S, Islander G, Muller CR. Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort. Clinical Genetics. 2014. Sep 25. 10.1111/cge.12508.
129. Kim JH, Jarvik GP, Browning BL, Rajagopalan R, Gordon AS, Rieder MJ, et al. Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology. 2013;119(5):1054-65.
130. Schiemann AH, Durholt EM, Pollock N, Stowell KM. Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia. Br J Anaesth. 2013;110(1):122-7.
131. Fiszer D, Shaw MA, Fisher NA, Carr IM, Gupta PK, Watkins EJ, et al. Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015;122(5):1033-46.
132. Rieber N, Zapatka M, Lasitschka B, Jones D, Northcott P, Hutter B, et al. Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies. PLoS One. 2013;8(6):e66621.
133. Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, et al. Recommendations for returning genomic incidental findings? We need to talk! Genet Med. 2013;15(11):854-9.
134. European Malignant Hyperthermia Group http://www.emhg.org. Accessed 10 July 2015.
135. Anderson AA, Brown RL, Polster B, Pollock N, Stowell KM. Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. Anesthesiology. 2008;108(2):208-15.
136. Schiemann AH, Paul N, Parker R, Pollock N, Bulger TF, Stowell KM. Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia. Anesth Analg. 2014;118(2):375-80.
137. Vukcevic M, Broman M, Islander G, Bodelsson M, Ranklev-Twetman E, Muller CR, et al. Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg. 2010;111(1):185-90.
138. Zullo A, Klingler W, De Sarno C, Ferrara M, Fortunato G, Perrotta G, et al. Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009;30(4):E575-90.
139. Lefebvre R, Legrand C, Groom L, Dirksen RT, Jacquemond V. Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants. PLoS One. 2013;8(1):e54042.
140. Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, et al. Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. Hum Mutat. 2007;28(1):61-8.
141. Klingler W, Baur C, Georgieff M, Lehmann-Horn F, Melzer W. Detection of proton release from cultured human myotubes to identify malignant hyperthermia susceptibility. Anesthesiology. 2002;97(5):1059-66.
142. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Current Protocols in Human Genetics / editorial board, Jonathan L Haines [et al.]. 2013;Chapter 7:Unit7 20.
143. Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics (Oxford, England). 2005;21(14):3176-8.
144. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31(13):3812-4.
145. Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics (Oxford, England). 2009;25(21):2744-50.
146. Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat. 2009;30(8):1237-44.
147. Ener RA, Meglathery SB, Van Decker WA, Gallagher RM. Serotonin syndrome and other serotonergic disorders. Pain Medicine (Malden, Mass). 2003;4(1):63-74.
148. Russell T, Riazi S, Kraeva N, Steel AC, Hawryluck LA. Ecstacy-induced delayed rhabdomyolysis and neuroleptic malignant syndrome in a patient with a novel variant in the ryanodine receptor type 1 gene. Anaesthesia. 2012;67(9):1021-4.
149. Rosenberg H, Grant M. Ascending tonic-clonic syndrome secondary to intrathecal Omnipaque. J Clin Anesth. 2004;16(4):299-300.
150. Larach MG, Rosenberg H, Gronert GA, Allen GC. Hyperkalemic cardiac arrest during anesthesia in infants and children with occult myopathies. Clin Pediatr. 1997;36(1):9-16.
151. Nathan A, Ganesh A, Godinez RI, Nicolson SC, Greeley WJ. Hyperkalemic cardiac arrest after cardiopulmonary bypass in a child with unsuspected duchenne muscular dystrophy. Anesth Analg. 2005;100(3):672-4.
152. Burke W, Pinsky LE, Press NA. Categorizing genetic tests to identify their ethical, legal, and social implications. Am J Med Genet. 2001;106(3):233-40.
153. Grover S. The psychological dimension of informed consent: dissonance processes in genetic testing. J Genet Couns. 2003;12(5):389-403.
154. Machini K, Douglas J, Braxton A, Tsipis J, Kramer K. Genetic counselors' views and experiences with the clinical integration of genome sequencing. J Genet Couns. 2014;23(4):496-505.
155. Ulm E, Feero WG, Dineen R, Charrow J, Wicklund C. Genetics Professionals' Opinions of Whole-Genome Sequencing in the Newborn Period. J Genet Couns. 2014;24(3):452-63.
156. Bannister RA. Dantrolene-induced inhibition of skeletal L-type Ca2+ current requires RyR1 expression. BioMed Res Int. 2013;2013:390493.
157. Paul-Pletzer K, Yamamoto T, Bhat MB, Ma J, Ikemoto N, Jimenez LS, et al. Identification of a dantrolene-binding sequence on the skeletal muscle ryanodine receptor. J Biol Chem. 2002;277(38):34918-23.
158. Rubin AS, Zablocki AD. Hyperkalemia, verapamil, and dantrolene. Anesthesiology. 1987;66(2):246-9.
159. Malignant Hyperthermia Australia and New Zealand http://www.anaesthesia.mh.org.au/mh-resource-kit/w1/i1002692/. Accessed 10 July 2015.
160. Malignant Hyperthermia Association of the USA http://www.mhaus.org. Accessed 10 July 2015.
161. Schuster F, Johannsen S, Roewer N. Helsinki Declaration on Patient Safety in Anaesthesiology - Part 3: SOP for malignant hyperthermia. Anasthesiol Intensivmed Notfallmed Schmerzther. 2013;48(3):162-4.
162. 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(2):498-507.
163. Larach MG, Allen GC, Simon A. Safety and efficacy of Dantrolene Sodium for the Treatment of Malignant Hyperthermia Events. Anesthesiology. 1993;79:A1079.
164. Grunau BE, Wiens MO, Brubacher JR. Dantrolene in the treatment of MDMA-related hyperpyrexia: a systematic review. CJEM. 2010;12(5):435-42.
165. Hollander AS, Olney RC, Blackett PR, Marshall BA. Fatal malignant hyperthermia-like syndrome with rhabdomyolysis complicating the presentation of diabetes mellitus in adolescent males. Pediatrics. 2003;111(6 Pt 1):1447-52.
166. Brandom BW, Larach MG, Chen MS, Young MC. Complications associated with the administration of dantrolene 1987 to 2006: a report from the North American Malignant Hyperthermia Registry of the Malignant Hyperthermia Association of the United States. Anesth Analg. 2011;112(5):1115-23.
167. Gilly H, Weindlmayr-Goettel M, Koberl G, Steinbereithner K. Anaesthetic uptake and washout characteristics of patient circuit tubing with special regard to current decontamination techniques. Acta Anaesthesiol Scand. 1992;36(7):621-7.
168. Jones C, Bennett K, Kim TW, Bulger TF, Pollock N. Preparation of Datex-Ohmeda Aestiva and Aisys anaesthetic machines for use in malignant hyperthermia susceptible patients. Anaesth Intensive Care. 2012;40(3):490-7.
169. Bilmen JG, Gillies RI. Clarifying the role of activated charcoal filters in preparing an anaesthetic workstation for malignant hyperthermia-susceptible patients. Anaesth Intensive Care. 2014;42(1):51-8.
170. Birgenheier N, Stoker R, Westenskow D, Orr J. Activated charcoal effectively removes inhaled anesthetics from modern anesthesia machines. Anesth Analg. 2011;112(6):1363-70.
171. Barnes C, Stowell KM, Bulger T, Langton E, Pollock N. Safe duration of postoperative monitoring for malignant hyperthermia patients administered non-triggering anaesthesia: an update. Anaesth Intensive Care. 2015;43(1):98-104.
172. National Institute for Health and Clinical Excellence. Depth of anaesthesia monitors https://www.nice.org.uk/guidance/dg6. Accessed 10 July 2015.
173. Lerman J, Johr M. Inhalational anesthesia vs total intravenous anesthesia (TIVA) for pediatric anesthesia. Paediatr Anaesth. 2009;19(5):521-34.
174. Denborough MA. Heat stroke and malignant hyperpyrexia. Med J Aust. 1982;1(5):204-5.
175. Gronert GA. Dantrolene in malignant hyperthermia (MH)-susceptible patients with exaggerated exercise stress. Anesthesiology. 2000;93(3):905.
176. Gronert GA, Thompson RL, Onofrio BM. Human malignant hyperthermia: awake episodes and correction by dantrolene. Anesth Analg. 1980;59(5):377-8.
177. Tobin JR, Jason DR, Challa VR, Nelson TE, Sambuughin N. Malignant hyperthermia and apparent heat stroke. JAMA. 2001;286(2):168-9.
178. Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, et al. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet. 2000;9(10):1515-24.
179. Brandom BW, Muldoon SM. Unexpected MH deaths without exposure to inhalation anesthetics in pediatric patients. Paediatr Anaesth. 2013;23(9):851-4.
180. Gronert GA, Tobin JR, Muldoon S. Malignant hyperthermia: human stress triggering. Biochim Biophys Acta. 2011;1813(12):2191-2. author reply 3-4.
181. Thomas J, Crowhurst T. Exertional heat stroke, rhabdomyolysis and susceptibility to malignant hyperthermia. Intern Med J. 2013;43(9):1035-8.
182. Groom L, Muldoon SM, Tang ZZ, Brandom BW, Bayarsaikhan M, Bina S, et al. Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families. Anesthesiology. 2011;115(5):938-45.
183. Ellis FR, Green JH, Campbell IT. Muscle activity, pH and malignant hyperthermia. Br J Anaesth. 1991;66(5):535-7.
184. Haggendal J, Jonsson L, Carlsten J. The role of sympathetic activity in initiating malignant hyperthermia. Acta Anaesthesiol Scand. 1990;34(8):677-82.
185. Isbister GK, Whyte IM. Serotonin toxicity and malignant hyperthermia: role of 5-HT2 receptors. Br J Anaesth. 2002;88(4):603. author reply -4.
186. Wappler F, Fiege M, Schulte am Esch J. Pathophysiological role of the serotonin system in malignant hyperthermia. Br J Anaesth. 2001;87(5):794-8.
187. Corona BT, Hamilton SL, Ingalls CP. Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle. Muscle Nerve. 2010;42(2):270-2.
188. Yuen B, Boncompagni S, Feng W, Yang T, Lopez JR, Matthaei KI, et al. Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage. FASEB J. 2012;26(3):1311-22.
189. Wappler F, Fiege M, Antz M, Schulte am Esch J. Schulte am Esch J. Hemodynamic and metabolic alterations in response to graded exercise in a patient susceptible to malignant hyperthermia. Anesthesiology. 2000;92(1):268-72.
190. Davis M, Brown R, Dickson A, Horton H, James D, Laing N, et al. Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. Br J Anaesth. 2002;88(4):508-15.
191. Wappler F, Fiege M, Steinfath M, Agarwal K, Scholz J, Singh S, et al. Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis. Anesthesiology. 2001;94(1):95-100.
192. Grogan H, Hopkins PM. Heat stroke: implications for critical care and anaesthesia. Br J Anaesth. 2002;88(5):700-7.
193. Guis S, Figarella-Branger D, Mattei JP, Nicoli F, Le Fur Y, Kozak-Ribbens G, et al. In vivo and in vitro characterization of skeletal muscle metabolism in patients with statin-induced adverse effects. Arthritis Rheum. 2006;55(4):551-7.
194. Vladutiu GD, Isackson PJ, Kaufman K, Harley JB, Cobb B, Christopher-Stine L, et al. Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. Mol Genet Metab. 2011;104(1-2):167-73.
195. Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, et al. Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet. 1998;62(3):599-609.
196. Robinson RL, Anetseder MJ, Brancadoro V, van Broekhoven C, Carsana A, Censier K, et al. Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? Eur J Hum Genet. 2003;11(4):342-8.
197. Heytens L. Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families. Acta Anaesthesiol Belg. 2007;58(2):113-8.
198. Serfas KD, Bose D, Patel L, Wrogemann K, Phillips MS, MacLennan DH, et al. Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology. 1996;84(2):322-9.
199. Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, et al. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am J Hum Genet. 2006;79(5):859-68.
200. Robinson RL, Carpenter D, Halsall PJ, Iles DE, Booms P, Steele D, et al. Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility. Br J Anaesth. 2009;103(2):220-5.
201. Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, et al. Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. Hum Mol Genet. 2015;27:pii: ddv195. Epub ahead of print.
202. Urwyler A, Deufel T, McCarthy T, West S. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth. 2001;86(2):283-7.
203. I am susceptible to MH http://www.mhaus.org/public/testing/i-am-mh-susceptible-now-what.pdf. Accessed 10 July 2015.
204. Malignant Hyperthermia Association of the USA-FAQS Molecular Genetics http://www.mhaus.org/faqs/molecular-genetics. Accessed 10 July 2015.
205. North American Malignant Hyperthermia Registry http://www.mhreg.org. Accessed 10 July 2015.
206. Larach MG, Brandom BW, Allen GC, Gronert GA, Lehman EB. Cardiac arrests and deaths associated with malignant hyperthermia in North America from 1987 to 2006: a report from the North American Malignant Hyperthermia Registry of the malignant hyperthermia association of the United States. Anesthesiology. 2008;108(4):603-11.