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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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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | DD-MD, X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy, DMD |
| Year Published |
Informazioni generali
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 analysed in this test is found in the Cavalier King Charles Spaniel, and is sometimes known as Cavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD).
Caratteristiche cliniche
The disorder is characterised by progressive weakness and muscle wasting, eventually causing death.
Informazioni aggiuntive
La base molecolare della mutazione distrofica può essere diversa tra le razze. Nel Cavalier King Charles Spaniel la causa riportata è una mutazione missense nel sito di giunzione 5′ donatore dell'esone 50.
Riferimenti
Pubmed ID: 20072625
Omia ID: 1081