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Centronuclear Myopathy (CNM) is the common name for a range of inherited muscular diseases which are characterised primarily by muscle weakness and muscle wasting.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Centronuclear Myopathy (CNM) is the common name for a range of inherited 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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 35244154
Omia ID: 2534
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