malignant hyperthermia

Summary

Summary: Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.

Top Publications

  1. Bonciu M, de La Chapelle A, Delpech H, Depret T, Krivosic Horber R, Aimé M. Minor increase of endtidal CO2 during sevoflurane-induced malignant hyperthermia. Paediatr Anaesth. 2007;17:180-2 pubmed
    b>Malignant hyperthermia (MH) in a pediatric patient during sevoflurane anesthesia with only a minor rise of endtidal CO(2) is described. MH was considered because of increased rectal temperature...
  2. Jiang D, Chen W, Xiao J, Wang R, Kong H, Jones P, et al. Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia. J Biol Chem. 2008;283:20813-20 pubmed publisher
    ..occurring mutations in the skeletal muscle Ca(2+) release channel/ryanodine receptor RyR1 are linked to malignant hyperthermia (MH), a life-threatening complication of general anesthesia...
  3. Gurnaney H, Brown A, Litman R. Malignant hyperthermia and muscular dystrophies. Anesth Analg. 2009;109:1043-8 pubmed publisher
    ..We performed a systematic analysis to define the spectrum of anesthetic-related complications in patients with muscular dystrophy, with an emphasis on malignant hyperthermia susceptibility.
  4. Murayama T, Oba T, Hara H, Wakebe K, Ikemoto N, Ogawa Y. Postulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia. Biochem J. 2007;402:349-57 pubmed
    ..aberration of this suppression mechanism is involved in the development of channel dysfunctions in MH (malignant hyperthermia), we investigated properties of the RyR1 channels from normal and MHS (MH-susceptible) pig skeletal ..
  5. Cherednichenko G, Ward C, Feng W, Cabrales E, Michaelson L, Samso M, et al. Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene. Mol Pharmacol. 2008;73:1203-12 pubmed publisher
    Dantrolene is the drug of choice for the treatment of malignant hyperthermia (MH) and is also useful for treatment of spasticity or muscle spasms associated with several clinical conditions...
  6. 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:E575-90 pubmed publisher
    Mutations in the RYR1 gene are linked to malignant hyperthermia (MH), central core disease and multi-minicore disease...
  7. Litman R, Rosenberg H. Malignant hyperthermia: update on susceptibility testing. JAMA. 2005;293:2918-24 pubmed
    b>Malignant hyperthermia (MH) is a pharmacogenetic clinical syndrome that manifests as a hypermetabolic crisis when a susceptible individual is exposed to an anesthetic triggering agent...
  8. Sambuughin N, Holley H, Muldoon S, Brandom B, de Bantel A, Tobin J, 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;102:515-21 pubmed
    b>Malignant hyperthermia (MH) is a life-threatening and frequently fatal disorder triggered by commonly used anesthetics. MH susceptibility is a genetically determined predisposition to the development of MH...
  9. Capacchione J, Sambuughin N, Bina S, Mulligan L, Lawson T, Muldoon S. 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;112:239-44 pubmed publisher

Scientific Experts

More Information

Publications62

  1. Migita T, Mukaida K, Kobayashi M, Hamada H, Kawamoto M. The severity of sevoflurane-induced malignant hyperthermia. Acta Anaesthesiol Scand. 2012;56:351-6 pubmed publisher
    b>Malignant hyperthermia (MH) is a potentially fatal complication of general anesthesia triggered by volatile anesthetics. In animal studies, sevoflurane has been reported to be a weak triggering agent...
  2. Eltit J, Ding X, Pessah I, Allen P, Lopez J. Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia. FASEB J. 2013;27:991-1000 pubmed publisher
    b>Malignant hyperthermia (MH) susceptibility has been attributed to a leaky sarcoplasmic reticulum (SR) caused by missense mutations in RYR1 or CACNA1S, and the MH crisis has been attributed solely to massive self-sustaining release of Ca(2+..
  3. Carpenter D, Ringrose C, Leo V, Morris A, Robinson R, Halsall P, et al. The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet. 2009;10:104 pubmed publisher
    b>Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle sarcoplasmic reticulum...
  4. Dexter F, Epstein R, Wachtel R, Rosenberg H. Estimate of the relative risk of succinylcholine for triggering malignant hyperthermia. Anesth Analg. 2013;116:118-22 pubmed publisher
    Facilities with volatile anesthetic agents stock dantrolene for the treatment of malignant hyperthermia (MH)...
  5. Nishio H, Sato T, Fukunishi S, Tamura A, Iwata M, Tsuboi K, et al. Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature. Leg Med (Tokyo). 2009;11:142-3 pubmed publisher
    b>Malignant hyperthermia (MH) is a genetic disorder of skeletal muscle in susceptible individuals that is triggered by exposure to anesthetic agents, and can cause death...
  6. Metterlein T, Schuster F, Kranke P, Roewer N, Anetseder M. In-vitro contracture testing for susceptibility to malignant hyperthermia: can halothane be replaced?. Eur J Anaesthesiol. 2011;28:251-5 pubmed publisher
    b>Malignant hyperthermia is a potentially lethal inherited hypermetabolic syndrome that develops in susceptible individuals following administration of depolarising neuromuscular relaxants or volatile anaesthetics...
  7. Takagi A, Nakase H. [Malignant hyperthermia-like reactions in Duchenne or Becker muscular dystrophy: review and hypothesis]. Rinsho Shinkeigaku. 2008;48:101-5 pubmed
    Adverse reactions to genral anesthesia, which partly resembled malignant hyperthermia (MH), were more frequent in muscular dystrophy than in controls...
  8. Metterlein T, Schuster F, Palmer E, Roewer N, Anetseder M. Succinylcholine in malignant hyperthermia: evaluation of a novel in vivo model. Muscle Nerve. 2011;44:213-6 pubmed publisher
    b>Malignant hyperthermia (MH) is a potentially lethal anesthetic complication characterized by muscle hypermetabolism and generalized rigor...
  9. Hsu S, Huang W, Yeh H, Hsieh A. Suspected malignant hyperthermia during sevoflurane anesthesia. J Chin Med Assoc. 2007;70:507-10 pubmed
    b>Malignant hyperthermia is a rare anesthetic-related disorder. We present a case with unusual presentation. A boy aged 3 years and 9 months who was scheduled for Hotz's operation presented normally before the operation...
  10. Unger R. General anesthesia with dexmedetomidine in a malignant hyperthermia-susceptible woman. Acta Anaesthesiol Scand. 2006;50:1312-3 pubmed
  11. Bannister M, Hamada T, Murayama T, Harvey P, Casarotto M, Dulhunty A, et al. Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area. Biochem J. 2007;401:333-9 pubmed
    To explain the mechanism of pathogenesis of channel disorder in MH (malignant hyperthermia), we have proposed a model in which tight interactions between the N-terminal and central domains of RyR1 (ryanodine receptor 1) stabilize the ..
  12. Robinson R, Carpenter D, Shaw M, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006;27:977-89 pubmed
    ..Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia (MH); and three congenital myopathies, including central core disease (CCD), multiminicore disease (MmD), ..
  13. Monnier N, Kozak Ribbens G, Krivosic Horber R, Nivoche Y, Qi D, Kraev N, et al. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005;26:413-25 pubmed
    b>Malignant hyperthermia susceptibility (MHS) is a subclinical pharmacogenetic disorder caused by an impairment of skeletal muscle calcium homeostasis in response to triggering agents...
  14. Chelu M, Goonasekera S, Durham W, Tang W, Lueck J, Riehl J, et al. Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J. 2006;20:329-30 pubmed
    b>Malignant hyperthermia (MH) is a life-threatening disorder characterized by skeletal muscle rigidity and elevated body temperature in response to halogenated anesthetics such as isoflurane or halothane...
  15. 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;48:1019-27 pubmed
    The diagnosis of susceptibility to malignant hyperthermia (MH) is currently performed on muscle biopsies subjected to halothane-caffeine in vitro contracture tests (IVCTs)...
  16. Yang T, Esteve E, Pessah I, Molinski T, Allen P, Lopez J. Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR. Am J Physiol Cell Physiol. 2007;292:C1591-8 pubmed
    b>Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle triggered in susceptible individuals by inhalation anesthetics and depolarizing skeletal muscle relaxants...
  17. Eltit J, Bannister R, Moua O, Altamirano F, Hopkins P, Pessah I, et al. Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. Proc Natl Acad Sci U S A. 2012;109:7923-8 pubmed publisher
    b>Malignant hyperthermia (MH) susceptibility is a dominantly inherited disorder in which volatile anesthetics trigger aberrant Ca(2+) release in skeletal muscle and a potentially fatal rise in perioperative body temperature...
  18. Giulivi C, Ross Inta C, Omanska Klusek A, Napoli E, Sakaguchi D, Barrientos G, et al. Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice. J Biol Chem. 2011;286:99-113 pubmed publisher
    b>Malignant hyperthermia (MH) and central core disease in humans have been associated with mutations in the skeletal ryanodine receptor (RyR1)...
  19. Muldoon S, Deuster P, Brandom B, Bunger R. Is there a link between malignant hyperthermia and exertional heat illness?. Exerc Sport Sci Rev. 2004;32:174-9 pubmed
    Exertional heat illness (EHI) and malignant hyperthermia (MH) are two potentially lethal conditions. It has been suggested that a subset of MH susceptible persons may be predisposed to EHI...
  20. Bollig G, Mohr S, Raeder J. McArdle's disease and anaesthesia: case reports. Review of potential problems and association with malignant hyperthermia. Acta Anaesthesiol Scand. 2005;49:1077-83 pubmed
    ..deficiency in glycogen degradation in skeletal muscles has the potential of creating perioperative anaesthesiological problems; such as hypoglycaemia, rhabdomyolysis, myoglobinuria, acute renal failure and possibly malignant hyperthermia.
  21. Carpenter D, Ismail A, Robinson R, Ringrose C, Booms P, Iles D, et al. A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. Muscle Nerve. 2009;40:633-9 pubmed publisher
    In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p...
  22. Robinson R, Carpenter D, Halsall P, Iles D, Booms P, Steele D, et al. Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility. Br J Anaesth. 2009;103:220-5 pubmed publisher
    ..of the RYR1 gene has been proposed as an explanation for variable penetrance of dominant RYR1 mutations in malignant hyperthermia (MH)...
  23. Levano S, Vukcevic M, Singer M, Matter A, Treves S, Urwyler A, et al. Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009;30:590-8 pubmed publisher
    b>Malignant hyperthermia (MH) is an autosomal dominant disorder characterized by abnormal calcium homeostasis in skeletal muscle in response to triggering agents...
  24. Litman R, Flood C, Kaplan R, Kim Y, Tobin J. Postoperative malignant hyperthermia: an analysis of cases from the North American Malignant Hyperthermia Registry. Anesthesiology. 2008;109:825-9 pubmed publisher
    The initial presentation of malignant hyperthermia (MH) may begin in the postoperative period. However, the maximal latency period between the end of anesthesia care and the onset of postoperative MH is unknown...
  25. Ibarra M C, 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;104:1146-54 pubmed
    b>Malignant hyperthermia (MH) is a disorder of calcium homeostasis in skeletal muscle triggered by volatile anesthetics or succinylcholine in susceptible persons...
  26. Stamm D, Aylsworth A, Stajich J, Kahler S, Thorne L, Speer M, et al. Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am J Med Genet A. 2008;146A:1832-41 pubmed publisher
    ..cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia...
  27. Barrientos G, Feng W, Truong K, Matthaei K, Yang T, Allen P, et al. Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. J Biol Chem. 2012;287:2863-76 pubmed publisher
    b>Malignant hyperthermia susceptibility (MHS) is primarily conferred by mutations within ryanodine receptor type 1 (RYR1)...
  28. Hopkins P. Malignant hyperthermia: pharmacology of triggering. Br J Anaesth. 2011;107:48-56 pubmed publisher
    Over the past 50 yr, many drugs have been implicated as triggers of malignant hyperthermia (MH), a potentially fatal pharmacogenetic disorder of skeletal muscle calcium regulation...
  29. Feng W, Barrientos G, Cherednichenko G, Yang T, Padilla I, Truong K, et al. Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. Mol Pharmacol. 2011;79:420-31 pubmed publisher
    Mutations in ryanodine receptor type 1 (RyR1) confer malignant hyperthermia susceptibility...
  30. Avila G. Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved. Cell Calcium. 2005;37:121-7 pubmed
    b>Malignant hyperthermia (MH) and central core disease (CCD) are inherited human disorders of skeletal muscle Ca2+ homeostasis...
  31. Corona B, Hamilton S, Ingalls C. Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle. Muscle Nerve. 2010;42:270-2 pubmed publisher
    b>Malignant hyperthermia (MH) episodes may occur upon exposure to halogenated anesthetics, during resistance and endurance exercise, and in response to thermal stress...
  32. Tokunaga C, Hiramatsu Y, Noma M, Takahashi M, Horigome H, Iwasaki N, et al. [Delayed onset malignant hyperthermia after a closure of ventricular septal defect]. Kyobu Geka. 2005;58:201-5 pubmed
    ..Her clinical course supported the diagnosis of delayed onset malignant hyperthermia. Histopathological findings of muscle biopsy were consistent with rhabdomyolysis, and immunopathological ..
  33. Galli L, Orrico A, Lorenzini S, Censini S, Falciani M, Covacci A, et al. Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006;27:830 pubmed
    b>Malignant hyperthermia (MH) is a dominantly inherited pharmacogenetic condition that manifests as a life-threatening hypermetabolic reaction when a susceptible individual is exposed to common volatile anesthetics and depolarizing muscle ..
  34. Bandschapp O, Girard T. Malignant hyperthermia. Swiss Med Wkly. 2012;142:w13652 pubmed publisher
    b>Malignant hyperthermia (MH) is a subclinical myopathy, usually triggered by volatile anaesthetics and depolarising muscle relaxants. Clinical symptoms are variable, and the condition is sometimes difficult to identify...
  35. Capacchione J, Muldoon S. The relationship between exertional heat illness, exertional rhabdomyolysis, and malignant hyperthermia. Anesth Analg. 2009;109:1065-9 pubmed publisher
    Exertional heat illness, exertional rhabdomyolysis, and malignant hyperthermia (MH) are complex syndromes with similar pathophysiology...
  36. Benca J, Hogan K. Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options. Anesth Analg. 2009;109:1049-53 pubmed publisher
    Clinical episodes and abnormal laboratory tests compatible with a diagnosis of malignant hyperthermia have been observed in patients with a diversity of syndromes, enzymopathies, and coexisting disorders thereby raising the likelihood of ..
  37. Schuster F, Müller Reible C. [Malignant hyperthermia--diagnostics, treatment and anaesthetic management]. Anasthesiol Intensivmed Notfallmed Schmerzther. 2009;44:758-63; quiz 764 pubmed publisher
    In malignant hyperthermia (MH) susceptible individuals volatile anaesthetics and the depolarizing muscle relaxant succinylcholine may induce a potentially lethal hypermetabolic syndrome of skeletal muscle due to an uncontrolled ..
  38. Bannister R, Esteve E, Eltit J, Pessah I, Allen P, Lopez J, et al. A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels. J Gen Physiol. 2010;135:629-40 pubmed publisher
    ..Because the DHPR and RYR1 are functionally coupled, mutations in RYR1 that are linked to malignant hyperthermia (MH) may affect DHPR activity...
  39. Aleman M, Riehl J, Aldridge B, LeCouteur R, Stott J, Pessah I. Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia. Muscle Nerve. 2004;30:356-65 pubmed publisher
    Equine malignant hyperthermia MH has been suspected but never genetically confirmed. In this study, we investigated whether mutations in a candidate gene, RyR1, were associated with MH in two clinically affected horses...
  40. Pirone A, Schredelseker J, Tuluc P, Gravino E, Fortunato G, Flucher B, et al. Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit. Am J Physiol Cell Physiol. 2010;299:C1345-54 pubmed publisher
    To identify the genetic locus responsible for malignant hyperthermia susceptibility (MHS) in an Italian family, we performed linkage analysis to recognized MHS loci...
  41. Larach M, Brandom B, Allen G, Gronert G, Lehman E. 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;108:603-11 pubmed publisher
    ..determined associated cardiac arrest and death rates in cases from Canada and the United States as reported to The North American Malignant Hyperthermia (MH) Registry and analyzed factors associated with a higher risk of poor outcomes.
  42. Brandom B, Larach M, Chen M, Young M. 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;112:1115-23 pubmed publisher
    Dantrolene is the only specific treatment for malignant hyperthermia (MH), a genetic disorder in which life-threatening temperature increase has been induced by inhalation anesthetics and succinylcholine...
  43. Lyfenko A, Goonasekera S, Dirksen R. Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease. Biochem Biophys Res Commun. 2004;322:1256-66 pubmed
    ..conversion process (the DHPR and RyR1) result in a variety of skeletal muscle disorders including malignant hyperthermia (MH), central core disease (CCD), multiminicore disease, nemaline rod myopathy, and hypokalemic periodic ..
  44. Hernandez J, Secrest J, Hill L, McClarty S. Scientific advances in the genetic understanding and diagnosis of malignant hyperthermia. J Perianesth Nurs. 2009;24:19-31; quiz 32-4 pubmed publisher
    b>Malignant hyperthermia (MH), a potentially fatal disorder triggered by certain types of general anesthesia, has received much attention in the scientific literature...
  45. Hirshey Dirksen S, Larach M, Rosenberg H, Brandom B, Parness J, Lang R, et al. Special article: Future directions in malignant hyperthermia research and patient care. Anesth Analg. 2011;113:1108-19 pubmed publisher
    b>Malignant hyperthermia (MH) is a complex pharmacogenetic disorder of muscle metabolism...
  46. Yang T, Allen P, Pessah I, Lopez J. Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RyR1 malignant hyperthermia mutations. J Biol Chem. 2007;282:37471-8 pubmed
    Myotubes expressing wild type RyR1 (WT) or RyR1 with one of three malignant hyperthermia mutations R615C, R2163C, and T4826I (MH) were exposed sequentially to 60 mm KCl in Ca(2+)-replete and Ca(2+)-free external buffers (Ca+ and Ca-, ..
  47. Jonassen A, Petersen A, Mohr S, Andersson C, Skattum J, Kvernebo K, et al. Sevoflurane-induced malignant hyperthermia during cardiopulmonary bypass and moderate hypothermia. Acta Anaesthesiol Scand. 2004;48:1062-5 pubmed
    ..diagnosis were considered and we decided to treat the patient with dantrolene due to suspicion of malignant hyperthermia (MH)...
  48. Duke A, Hopkins P, Calaghan S, Halsall J, Steele D. Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. J Biol Chem. 2010;285:25645-53 pubmed publisher
    In malignant hyperthermia (MH), mutations in RyR1 underlie direct activation of the channel by volatile anesthetics, leading to muscle contracture and a life-threatening increase in core body temperature...
  49. Boncompagni S, Rossi A, Micaroni M, Hamilton S, Dirksen R, Franzini Armstrong C, et al. Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc Natl Acad Sci U S A. 2009;106:21996-2001 pubmed publisher
    b>Malignant hyperthermia (MH) and central core disease are related skeletal muscle diseases often linked to mutations in the type 1 ryanodine receptor (RYR1) gene, encoding for the Ca(2+) release channel of the sarcoplasmic reticulum (SR)...
  50. Carpenter D, Robinson R, Quinnell R, Ringrose C, Hogg M, Casson F, et al. Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009;103:538-48 pubmed publisher
    b>Malignant hyperthermia (MH) is associated, in the majority of cases, with mutations in RYR1, the gene encoding the skeletal muscle ryanodine receptor...
  51. Aleman M, Nieto J, Magdesian K. Malignant hyperthermia associated with ryanodine receptor 1 (C7360G) mutation in Quarter Horses. J Vet Intern Med. 2009;23:329-34 pubmed publisher
    Anesthetic-induced malignant hyperthermia (MH) has been documented in Quarter Horses with a single point mutation in the ryanodine receptor 1 gene (RyR1) at nucleotide C7360G, generating a R2454G amino acid substitution...
  52. Kaufmann A, Kraft B, Michalek Sauberer A, Weigl L. Novel ryanodine receptor mutation that may cause malignant hyperthermia. Anesthesiology. 2008;109:457-64 pubmed publisher
    b>Malignant hyperthermia (MH) is a hypermetabolic condition caused by a genetic disposition leading to increased Ca release from the sarcoplasmic reticulum after exposure to triggering agents...
  53. Kobayashi S, Yano M, Suetomi T, Ono M, Tateishi H, Mochizuki M, et al. Dantrolene, a therapeutic agent for malignant hyperthermia, markedly improves the function of failing cardiomyocytes by stabilizing interdomain interactions within the ryanodine receptor. J Am Coll Cardiol. 2009;53:1993-2005 pubmed publisher
    We sought to investigate the effect of dantrolene, a drug generally used to treat malignant hyperthermia, on the Ca2+ release and cardiomyocyte function in failing hearts.