Nemaline Myopathy – American Bulldog
Kodas: H957
Short description
Nemaline Myopathy (NM) is a muscle disorder that causes general weakness and loss of muscle tone.
General information
Nemaline Myopathy (NM) is a muscle disorder that causes general weakness and loss of muscle tone. The variant of the disease analysed in this test, found in the American Bulldog, is caused by a recessive mutation to the gene NEB
Specifications
| Breeds | |
|---|---|
| Gene | NEB |
| Chromosome | 19 |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected puppies begin presenting with weakness, exercise intolerance and trembling around two months of age. They display muscle atrophy, but remain able to walk. The disease is largely non-progressive, and will not likely worsen significantly over time.
References
Pubmed ID: 27215641
Year published: 2016
Omia ID: 2137
Omia variant ID:
Turnaround information
- 10 working days