Susceptibility to malignant hyperthermia 5
Susceptibility to malignant hyperthermia type 5 is an autosomal dominant trait inherited with mutation in the CACNA1S gene.
Monnier N et al. (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.[^]
Robinson RL et al. (1997) A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.[^]
OMIM.ORG articleOmim 601887 [^]