Disease phenotype | Item in this table | References | Gene symbol (chromosome)
protein |
| Malignant hyperthermia susceptibility 1 - (AD) | 8.1 | | 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 Feb 8;343(6258):559-61. (1967823) | | McCarthy TV, Healy JM, Heffron JJ, Lehane M, Deufel T, Lehmann-Horn F, Farrall M, Johnson K. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature. 1990 Feb 8;343(6258):562-4. (2300206) | | Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon 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 Nov;11(3):751-5. (1774074) | | Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science. 1991 Jul 26;253(5018):448-51. (1862346) | | Gillard EF, Otsu K, Fujii J, Duff C, de Leon 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 in individuals with malignant hyperthermia. Genomics. 1992 Aug;13(4):1247-54. (1354642) | | Quane KA, Healy JM, Keating KE, Manning BM, Couch FJ, Palmucci LM, Doriguzzi C, Fagerlund TH, Berg K, Ording H, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993 Sep;5(1):51-5 (8220423) | | Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ, et al. Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet. 1994 Oct;3(10):1855-8. (7849712) | | Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, Lehane M, Heytens L, Krivosic-Horber R, Adnet P, et al. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet. 1994 Mar;3(3):471-6. (8012359) |
| | Ryanodine receptor 1 (skeletal)
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| Malignant hyperthermia susceptibility 2 - (AD) | 8.2 | | 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. Genomics. 1992 Nov;14(3):562-6. (1427885) | | Moslehi 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 Feb 26;76(1):21-7. (9508059) |
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| Malignant hyperthermia susceptibility 3 - (AD) | 8.3 | | Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR, et al. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet. 1994 Jun;3(6):969-75. (7951247) |
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| Malignant hyperthermia susceptibility 4 - (AD) | 8.4 | | Sudbrak R, Golla A, Hogan K, Powers P, Gregg R, Du Chesne I, Lehmann-Horn F, Deufel T. Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Hum Mol Genet. 1993 Jul;2(7):857-62. (8395939) |
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| Malignant hyperthermia susceptibility 5 - (AD) | 8.5 | | Monnier, N.; Procaccio, V.; Stieglitz, P.; Lunardi, J. : Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. 60: 1316-1325, 1997. (9199552) |
| | Calcium channel, voltage-dependent, L type, alpha 1S subunit
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| Malignant hyperthermia susceptibility 6 - (AD) | 8.6 | | Robinson, R. L., Monnier, N., Wolz, W., Jung, M., Reis, A., Nuernberg, G., Curran, J. L., Monsieurs, K., Stieglitz, P., Heytens, L., Fricker, R., van Broeckhoven, C., Deufel, T., Hopkins, P. M., Lunardi, J., Mueller, C. R. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum. Molec. Genet. 6: 953-961, 1997. (9175745) |
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