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Congenital Myasthenic Syndrome (Labrador Retriever Type)

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Test Overview:

Congenital myasthenic syndrome Labrador retriever type belongs in a group of conditions, known as Congenital myasthenic syndromes (CMS). CMS is an inherited neuromuscular transmission disorder. It results in structural or functional defects of the neuromuscular junction, the place where nerve and muscle cells meet. 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:

2-hydroxyacyl-CoA lyase 1 (COLQ) on chromosome 23

Variant Detected:

Base Substitution c.1010T>C p.Ile337Thr

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Rinz CJ, et al. A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome (2014), PLoS One, 9(8): e106425

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Goldendoodle, Labradoodle , Labrador Retriever, Mixed Breed,

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