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Muscular dystrophy-dystroglycanopathy is a severe muscle disorder that causes weakness, stunted growth and often death.
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Specificaties
| Breeds | |
|---|---|
| Gene | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
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, and euthanasia is otherwise usually necessary.
Extra informatie
Referenties
Pubmed ID: 34654610
Omia ID: 2460