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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 | |
| Chromosome | X |
| Mode of Inheritance | X-Linked Recessive |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | DD-MD; X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy; DMD |
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.
The variant of the disorder analysed in this test is found in the Pembroke Welsh Corgi. It is also sometimes known as Corgi Muscular Dystrophy (CMD).
Caractéristiques cliniques
Clinical signs of muscular dystrophy are characterised by progressive weakness and muscle wasting, eventually causing death. In a study affected dogs showed a.o. feeding difficulties, delayed growth, generalized muscle wasting, mobility disorders and exercise intolerance.
Additional Information
Lié à une longue insertion répétitive entrecoupée d’élément-1 (LINE-1) dans l’intron 13.
La base moléculaire de la mutation de la dystrophine peut être différente d’une race à l’autre.
Références
Pubmed ID: 20714321
Year published: 2011
Omia ID: 1081
Omia variant ID: 708