Muscular Dystrophy-Dystroglycanopathy (MDD) – Labrador Retriever
Kodas: H688
Short description
Muscular dystrophy-dystroglycanopathy (MDD) is a severe muscle disorder that causes weakness, stunted growth and often death.
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.
Specifications
| Breeds | |
|---|---|
| Gene | LARGE1 |
| Chromosome | 10 |
| Mutation | c.1363C>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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.
References
Pubmed ID: 34654610
Year published: 2021
Omia ID: 2460
Omia variant ID:
Turnaround information
- 10 working days