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Congenital Myasthenic Syndrome (Old Danish Pointer Type) Overview

Congenital Myasthenic Syndrome (Old Danish Pointer Type)
US$ 75.00 RRP
US$ 67.50 REGISTERED USER PRICE
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

Gene: Choline O-acetyltransferase (CHAT) on chromosome 28

Variant Detected: Base Substitution c.85G>A Val29Met

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

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

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,