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. It has been identified in humans and dogs. First CMS in dogs was documented in Jack Russel terriers in the 1970’s. Since then, the CMS was reported in few other breeds, such as Labrador Retriver, Smooth Fox Terriers, Jack Russell Terriers, Smooth Haired Dachshunds and Old Danish Pointers. Congenital myasthenic syndrome Old Danish Pointing Dog Type differs from CMS of other breeds in pathological mechanism.


Nervous system / Neurologic - Associated with the brain, spinal cord and nerves


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

Variant Detected:

Base Substitution c.1010T>C p.Ile337Thr


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 , Labradoodle , Labrador Retriever, Mixed Breed,