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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 of the disorder analysed in this test is found in the Pembroke Welsh Corgi. It is also sometimes known as Corgi Muscular Dystrophy (CMD).
Caratteristiche cliniche
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.
Informazioni aggiuntive
Relativo ad un lungo inserimento intersperso dell'elemento ripetitivo-1 (LINE-1) nell'introne 13.
La base molecolare della mutazione della distrofica può essere diversa tra le razze
Riferimenti
Pubmed ID: 20714321
Omia ID: 1081