Exercise Induced Metabolic Myopathy
Kodas: H467
Įdėjimo į krepšelį mygtukas pasirodys po to, kai aukščiau pasirinksite reikšmę
Short description
Exercise induced metabolic myopathy (EIMM) results in muscle weakness.
General information
Exercise induced metabolic myopathy (EIMM) results in muscle weakness. The weakness is caused by the causative genetic defect in the ACADVL gene. EIMM is inherited as a monogenic autosomal recessive trait.
Specifications
| Breeds | |
|---|---|
| Gene | ACADVL |
| Chromosome | 5 |
| Mutation | c.1728C>A |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | EIMM |
Clinical features
Clinical features include generalized weakness, exercise intolerance, severe diffuse muscle pain and a brownish discoloration of the urine after exercise.
References
Pubmed ID: 29491033
Year published: 2018
Omia ID: 2140
Omia variant ID:
Turnaround information
- 10 working days