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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 |
| Mutation | c.7293+5G>T |
| Mode of Inheritance | X-Linked Recessive |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| 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 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).
Caractéristiques cliniques
The disorder is characterised by progressive weakness and muscle wasting, eventually causing death.
Additional Information
La base moléculaire de la mutation de la dystrophine peut être différente entre les races. Dans le Cavalier King Charles Spaniel la cause rapportée est une mutation faux-sens dans le 5′ site d’épissure de donneur de l’exon 50.
Références
Pubmed ID: 20072625
Year published: 2010
Omia ID: 1081
Omia variant ID: 367