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Congenital Myasthenic Syndrome (Labrador Retriever Type) Overview

Congenital Myasthenic Syndrome (Labrador Retriever Type)
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

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

Variant Detected: Base Substitution c.1010T>C p.Ile337Thr

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

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.

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): Mixed Breed,  Labrador Retriever,  Labradoodle ,  Australian Cobberdog,  Australian Labradoodle ,