X-linked Myotubular Myopathy (XLMTM) – Labrador Retriever
Kodas: H427
Short description
X-Linked Myotubular Myopathy (MTM1 or XLMTM) is a muscle disease characterised by early onset and the presence of uniformly small muscle fibers with centrally placed nuclei resembling fetal myotubes.
General information
X-Linked Myotubular Myopathy (MTM1 or XLMTM) is a muscle disease characterised by early onset and the presence of uniformly small muscle fibers with centrally placed nuclei resembling fetal myotubes. The disorder is caused by an X-linked recessive mutation to the gene MTM1.
The variant of the disorder analysed in this test is found in the Labrador Retriever. Related variants have been observed in the Rottweiler and Boykin Spaniel.
Specifications
| Breeds | |
|---|---|
| Gene | MTM1 |
| Chromosome | X |
| Mutation | c.465C>A |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
| Also known as | XLMTM |
Clinical features
This disease is characterised by severe muscle atrophy, absence of patellar reflexes and a dropped jaw caused by weakness of the muscles of mastication.
References
Pubmed ID: 20682747
Year published: 2010
Omia ID: 1508
Omia variant ID:
Turnaround information
- 10 working days