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Muscular dystrophy-dystroglycanopathy is a severe muscle disorder that causes weakness, stunted growth and often death.
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Algemene informatie
Muscular dystrophy-dystroglycanopathy is a severe muscle disorder that causes weakness, stunted growth and often death. This variant, found in the Labrador Retriever, is caused by a recessive mutation to the gene LARGE1.
Klinische eigenschappen
Affected puppies present with difficulty suckling, general weakness, poor weight gain (often weighing half as much as healthy littermates) and a bow-legged stance. The puppies may die within the first weeks of life, or are otherwise typically euthanized on humane grounds due to poor quality of life.
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Referenties
Pubmed ID: 34654610
Omia ID: 2460