Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Susceptibility to malignant hyperthermia 5

Susceptibility to malignant hyperthermia type 5 is an autosomal dominant trait inherited with mutation in the CACNA1S gene.


Chronic inflammatory disorders
Cryopyrin-associated periodic syndrome
Familial mediterranean fever
Inflammatory bowel disease
Mevalonate kinase-associated inflammatory diseases
Susceptibility to malignant hyperthermia 5
TNF receptor-associated periodic syndrome



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.

Update: Sept. 26, 2018