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P926

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle. The disease caused by mutations in the ryanodine receptor type 1 (RyR1) gene. The RyR1 gene causes dysfuntion of the calcium release channel of the sarcoplasmic reticulum in skeletal muscle.

Clinical features

Clinical feautures are intense heat, hypercapnia, lactic acidosis, and, in many cases, death.

Additional information

It is still unknown if the mutation in the RyR1 gene is responsible for all cases of MH in horses.

References

Pubmed ID: 15318347

Omia ID: 621

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