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EVG, molekularna diagnostika
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Slovenia



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Description

Characteristic signs of centronuclear myopathies include generalized muscle weakness, atrophy, predominance of type I fibres, and aberrant cell positioning of nuclei and mitochondria. In Great Danes generalized muscle atrophy, exercise intolerance, exercise-induced tremor and muscle wasting characterize the disease. The disease typically starts before 10 months of age, is highly progressive, and most of the affected dogs are euthanized before 18 months of age due to severe debilitating muscle weakness.

 

Inheritance: autosomal recessive- read more

Mutation: BIN1 gene

Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: read more

Affected breeds: Great Dane

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

 

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