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Congenital Muscular Dystrophy (Italian Greyhound Type)

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Test Overview:

Test all breeding for the LAMA2 mutation. Avoid breeding two carriers to prevent affected puppies. Breed carriers only to clear dogs. Remove affected dogs from breeding. Balanced breeding plans using genetic data maintain diversity while reducing disease incidence.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

LAMA2

Variant Detected:

nonsense c.3285G>A/p.(W1095*) chr1

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 Recessive

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/34828429/

Associated Breed(s):

Italian Greyhound,

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