Congenital Myasthenic Syndrome (CMS) – Labrador Retriever
Code: H339
Short description
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).
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.
Specifications
| Breeds | |
|---|---|
| Gene | COLQ |
| Chromosome | 23 |
| Mutation | c.1010T>C |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CMS |
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.
References
Pubmed ID: 25166616
Year published: 2014
Omia ID: 1928
Omia variant ID:
Turnaround information
- 15 working days