Citations for
1CACNA1S, MHS5
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia
Beam TA, Loudermilk EF, Kisor DF
Physiol Genomics. Feb 1;49(2):81-87. doi: 10.1152/physiolgenomics.00126.2016. Epub 2016 Dec 23 2017
2CACNA1S, MHS5
A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene
Toppin PJ, Chandy TT, Ghanekar A, Kraeva N, Beattie WS, Riazi S
Can J Anaesth. Jul;57(7):689-93. doi: 10.1007/s12630-010-9314-4. Epub 2010 Apr 30 2010
3MHS1, MHS5, CACNA1S, RYR1
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Romero N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J.
Hum Mutat 26(5):413-25. 2005
4MHS5, MHS6
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.
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.
Hum Mol Genet 6(6):953-61. 1997
5CACNA1S, MHS5
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.
Monnier N, Procaccio V, Stieglitz P, Lunardi J.
Am J Hum Genet 60(6):1316-25. 1997