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Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | DD-MD, X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy, DMD |
| Year Published |
Informations générales
Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans. The disorder is severe and ultimately fatal, and causes progressive degradation of the dog’s muscles. It is caused by an X-linked recessive mutation to the DMD gene.
This specific variant of the disorder is found in the Border Collie.
Caractéristiques cliniques
Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately muscle fiber degeneration. Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy.
Additional Information
Références
Pubmed ID: 29843823
Omia ID: 1081