Centronuclear Myopathy (CNM) – Border Collie
Kodas: H663
Short description
Centronuclear Myopathy (CNM) is the common name for a range of hereditary muscular diseases which are characterised primarily by muscle weakness and muscle wasting.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | DNM2 |
| Chromosome | 20 |
| Mutation | c.1393C>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant |
| Also known as | ADCNM |
Clinical features
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.
References
Pubmed ID: 35244154
Year published: 2022
Omia ID: 2534
Omia variant ID:
Turnaround information
- 10 working days