Malignant Hyperthermia (MH) – American Quarter Horse
Code: P926
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Short description
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle.
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.
Specifications
| Breeds | |
|---|---|
| Gene | RYR1 |
| Chromosome | 10 |
| Mutation | c.7360C>G |
| Organ | Muscles |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant |
| Also known as | MH |
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
Year published: 2004
Omia ID: 621
Omia variant ID:
Turnaround information
- 15 working days