Congenital Myasthenic Syndrome (Old Danish Pointer Type)

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,