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Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | DD-MD, X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy, DMD |
| Year Published |
Información específica de la prueba
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).
Características clínicas
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.
Información adicional
Relacionado con una inserción larga intercalada del elemento repetitivo-1 (LINE-1) en el intrón 13.
La base molecular de la mutación de la distrofina puede ser diferente entre razas
Referencias
Pubmed ID: 20714321
Omia ID: 1081