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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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Spezifikationen
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tupfer, EDTA Blut, Heparin Blut, Sperma, Gewebe |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Allgemeine Informationen
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.
Klinische Merkmale
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.
Zusätzliche Information
Verweise
Pubmed ID: 34654610
Omia ID: 2460