Muscular Dystrophy (MD) – Corgi
Kodas: H419
Short description
Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans.
General information
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).
Specifications
| Breeds | |
|---|---|
| Gene | DMD |
| Chromosome | X |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
| Also known as | DD-MD; X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy; DMD |
Clinical features
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
Related to a long interspersed repetitive element-1 (LINE-1) insertion in intron 13.
The molecular basis of the dystrophin mutation may be different between breeds
References
Pubmed ID: 20714321
Year published: 2011
Omia ID: 1081
Omia variant ID:
Turnaround information
- 10 working days