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Ullrich-Type Muscular Dystrophy (MD) is a muscle disorder in the Labrador Retriever that primarily causes weakness and deformation of the limb muscles.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 25 |
| Mutation | c.4726C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Ullrich-Type Muscular Dystrophy (MD) is a muscle disorder in the Labrador Retriever that primarily causes weakness and deformation of the limb muscles. The disorder can be caused by one of two known mutations to the gene COL6A3. The mutation analysed in this test, referred to here as variant 2, is recessive. The other, variant 1, is dominant
Caractéristiques cliniques
The primary symptom of this disorder are angular limb deformity (crooked stance) and and a "flat-footed" overextension of the carpal (wrist) joints. Symptoms present at approximately 4 months of age.
Additional Information
Two different mutations can cause the disorder. This test only covers one of them.
Références
Pubmed ID: 32439203
Year published: 2020
Omia ID: 2274
Omia variant ID: 1207