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Congenital Myasthenic Syndrome (Old Danish Pointer Type)
Test Overview:
Affected dogs are able to run normally for 5–30 min after which they take shorter and shorter strides and eventually fall down with flexed fore- and hindlegs. After some minutes rest, they are able to walk and run again for variable periods of time before the signs reappear
Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
Choline O-acetyltransferase (CHAT) on chromosome 28
Variant Detected:
Base Substitution c.85G>A Val29Met
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Proschowsky HF, et al.Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. (2007), J of Hered, 98 (5): 539-543.
Associated Breed(s):
Mixed Breed, Old Danish Pointing Dog,
