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Muscular dystrophy-dystroglycanopathy (MDD) is a severe muscle disorder that causes weakness, stunted growth and often death.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 10 |
| Mutation | c.1363C>T |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
General information
Muscular dystrophy-dystroglycanopathy (MDD) 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.
Clinical features
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.
Additional information
References
Pubmed ID: 34654610
Year published: 2021
Omia ID: 2460
Omia variant ID: