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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

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

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

Omia ID: 2274

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3. Résultat

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