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Congenital Myasthenic Syndrome (CMS) is a heterogeneous subgroup of neuromuscular disorders.
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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 heterogeneous subgroup of neuromuscular disorders. A causal mutation in the COLQ gene affects acetylcholinesterase, an enzyme that terminates signal transduction at the neuromuscular junction.
Clinical features
Cats with Congenital myasthenic syndrome (CMS) have a congenital muscle weakness. Cats show evidence of generalized muscle weakness, particularly following exertion, stress, or excitement. Characteristic positions as “dog-begging” or “chipmunk”, usually with their front legs resting on a convenient object can be shown. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible. Occasionally the symptoms become static.
Additional information
References
Pubmed ID: 26327126,26374066
Omia ID: 1621