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In dogs affected with Myotonia Congenita (MC) part of the skeletal muscle chloride channels are unable to fully open.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
In dogs affected with Myotonia Congenita (MC) part of the skeletal muscle chloride channels are unable to fully open. The result is a delay in skeletal muscle relaxation, frequent contraction and muscle hypertrophy.
This variant of the disorder is caused by a recessive mutation to the gene CLCN1. It is found in the Australian Cattle Dog and the Border Collie.
Clinical features
Dogs suffering from Myotonia Congenital show a stiff gait especially at the onset of movement and during rapid changes in posture (turning quickly, falling). The symptoms may diminish with exercise. Other symptoms are severe skeletal muscle hypertrophy, difficulty rising, increased respiratory sounds, difficulty swallowing, and hypersalivation. The symptoms start at a young age.
Additional information
References
Pubmed ID: 17552451
Omia ID: 698