57,48 47,50 excl. VAT

H339

Congenital Myasthenic Syndrome (CMS) is a class of neuromuscular disorders characterised by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ).

10 working days

€5,95 shipping and administration per order (incl. VAT)

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Congenital Myasthenic Syndrome (CMS) is a class of neuromuscular disorders characterised by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). This variant of the disorder is caused by a recessive mutation to the gene COLQ, and occurs in the Labrador Retriever. A related variant has been found in the Golden Retriever.

Clinical features

Neurological examination was consistent with a generalized neuromuscular disease with marked short-strided tetraparesis that worsened with exercise. Postural reactions were preserved with the exception of hopping which was diminished in all limbs when the puppies were made to bear full weight. Spinal reflexes including the patellar, cranial tibial, and flexor withdrawals were reduced in all limbs.

Additional information

References

Pubmed ID: 25166616

Omia ID: 1928

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

Related products