Awaiting product image

€57,48 €47,50 excl. VAT

H359

Cavalier King Charles Spaniels with dystrophin-deficient muscular dystrophy (CKCS-MD) experience the canine homologue of human Duchenne muscular dystrophy (DMD).

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Cavalier King Charles Spaniels with dystrophin-deficient muscular dystrophy (CKCS-MD) experience the canine homologue of human Duchenne muscular dystrophy (DMD). It is caused by mutations in the dystrophin gene.

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

Cavalier King Charles Spaniels muscular dystrophy (CKCS-MD) is characterised by progressive weakness and muscle wasting, eventually causing death.

Additional information

The molecular basis of the dystrophin mutation may be different between breeds. In the Cavalier King Charles Spaniel the reported cause is a missense mutation in the 5′ donor splice site of exon 50.

References

Pubmed ID: 20072625

Omia ID: 1081

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

Related products