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: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.