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Exercise induced metabolic myopathy (EIMM) results in muscle weakness.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Chromosome | 5 |
| Also known as | EIMM |
| Year Published | 2018 |
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.
Clinical features
Clinical features include generalized weakness, exercise intolerance, severe diffuse muscle pain and a brownish discoloration of the urine after exercise.
Additional information
References
Pubmed ID: 29491033
Omia ID: 2140