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Pembroke Welsh Corgi with muscular dystrophy (CMD) experience the canine homologue of human Duchenne muscular dystrophy (DMD).
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | DD-MD, X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy, DMD |
| Year Published |
General information
Pembroke Welsh Corgi with muscular dystrophy (CMD) experience the canine homologue of human Duchenne muscular dystrophy (DMD). The disorder is caused by an X-linked recessive mutation to the gene DMD.
Canine muscular dystrophy (CMD) is also known as Golden Retriever Muscular Dystrophy (GRMD), because this is the breed in which this disorder was first documented.
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.
Canine muscular dystrophy (CMD) is also known as Golden Retriever Muscular Dystrophy (GRMD), because this is the breed in which this disorder was first documented. It is caused by mutations in the dystrophin gene.
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
Omia ID: 1081
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