Citations for
1MHS1, 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
2MHS5, 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
3CACNA1S, 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