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.

Systematic

Chronic inflammatory disorders
Cryopyrin-associated periodic syndrome
Familial mediterranean fever
Inflammatory bowel disease
Mevalonate kinase-associated inflammatory diseases
Susceptibility to malignant hyperthermia 5
CACNA1S
TNF receptor-associated periodic syndrome

References:

1.

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.

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2.

Robinson RL et. al. (1997) A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.

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Update: Sept. 26, 2018