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Malignant hyperthermia, susceptibility to, 5

Disease ID:588
Name:Malignant hyperthermia, susceptibility to, 5
Associated with:1 target
Malignant hyperthermia
Database Links
Disease Ontology: DOID:8545
OMIM: 601887
Orphanet: ORPHA423


Role:  Unknown
References:  3-4,7
Mutations:  Cav1.1 is associated with 5 mutation. Click here for details


No ligand related data available for Malignant hyperthermia, susceptibility to, 5


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1. Baur CP, Klingler W, Jurkat-Rott K, Froeba G, Schoch E, Marx T, Georgieff M, Lehmann-Horn F. (2000) Xenon does not induce contracture in human malignant hyperthermia muscle. Br J Anaesth, 85 (5): 712-6. [PMID:11094586]

2. Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA. (2009) The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet, 10: 104. [PMID:19825159]

3. Jurkat-Rott K, Lerche H, Lehmann-Horn F. (2002) Skeletal muscle channelopathies. J Neurol, 249 (11): 1493-502. [PMID:12420087]

4. Monnier N, Procaccio V, Stieglitz P, Lunardi J. (1997) 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 (6): 1316-25. [PMID:9199552]

5. Pirone A, Schredelseker J, Tuluc P, Gravino E, Fortunato G, Flucher BE, Carsana A, Salvatore F, Grabner M. (2010) Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit. Am J Physiol, Cell Physiol, 299 (6): C1345-54. [PMID:20861472]

6. Striessnig J, Bolz HJ, Koschak A. (2010) Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels. Pflugers Arch, 460 (2): 361-74. [PMID:20213496]

7. Striessnig J, Hoda JC, Koschak A, Zaghetto F, Müllner C, Sinnegger-Brauns MJ, Wild C, Watschinger K, Trockenbacher A, Pelster G. (2004) L-type Ca2+ channels in Ca2+ channelopathies. Biochem Biophys Res Commun, 322 (4): 1341-6. [PMID:15336981]

8. Toppin PJ, Chandy TT, Ghanekar A, Kraeva N, Beattie WS, Riazi S. (2010) A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene. Can J Anaesth, 57 (7): 689-93. [PMID:20431982]