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Duchenne Muscular Dystrophy (Border Collie Type)

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Test Overview:

Breeding of carrier females is not recommended to avoid affected male offspring. Male dogs with DMD mutations are typically not bred due to disease severity. Genetic testing of breeding stock, particularly females, is essential to prevent disease transmission within the Border Collie population

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

DMD

Variant Detected:

deletion c.2841delT chrX

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal X-Linked

Recommended Screening:

Immunofluorescence microscopy on vastus lateralis (VL) and CT muscles

Research Citation(s):

https://skeletalmusclejournal.biomedcentral.com/articles/10.1186/s13395-018-0162-1

Associated Breed(s):

Border Collie,

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