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H912

Duchenne-type muscular dystrophy (DMD) in dogs is the homologue of the known human disease.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Duchenne-type muscular dystrophy (DMD) in dogs is the homologue of the known human disease. The disease is caused by a range of X-linked recessive mutations in the dystrophin gene (DMD) and is characterized by progressive weakness and muscle wasting that is ultimately fatal.

This test is developed for the Border Collie and measures the small deletion in the DMD gene that is linked to the Duchenne type muscular dustrophy in this breed.

Caractéristiques cliniques

Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately muscle fiber degeneration. Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy.

Additional Information

Références

Pubmed ID: 29843823

Omia ID: 1081

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