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Centronuclear Myopathy (CNM) is the common name for a range of hereditary muscular diseases which are characterised primarily by muscle weakness and muscle wasting.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 20 |
| Mutation | c.1393C>T |
| Mode of Inheritance | Autosomique dominante |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | ADCNM |
Informations générales
Centronuclear Myopathy (CNM) is the common name for a range of hereditary muscular diseases which are characterised primarily by muscle weakness and muscle wasting. The variant analysed in this test, observed in the Border Collie, is known as ADCNM or as DNM2-CNM. It is caused by a dominant mutation to the gene DNM2.
Caractéristiques cliniques
Symptoms of ADCNM include low appetite, a “bunny-hopping” gait while running, exercise intolerance, and exercise-induced collapse of the limbs, and general atrophy (wasting) of the muscles. Onset of symptoms is typically around the first year of age.
Additional Information
Références
Pubmed ID: 35244154
Year published: 2022
Omia ID: 2534
Omia variant ID: