X-linked Myotubular Myopathy (XLMTM) – Maine Coon
Kodas: K478
Short description
X-Linked Myotubular Myopathy (XLMTM) is a severe neuromuscular disorder that that causes muscle weakness, difficulty eating and walking.
General information
X-Linked Myotubular Myopathy (XLMTM) is a severe neuromuscular disorder that that causes muscle weakness, difficulty eating and walking. It is caused by an X-linked recessive mutation to the gene MTM1. This specific variant of the disorder has been observed in the Maine Coon.
Specifications
| Breeds | |
|---|---|
| Gene | MTM1 |
| Chromosome | X |
| Mutation | c.455C>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
| Also known as | XLMTM |
Clinical features
Affected cats begin displaying signs of myotubular myopathy between approximately 4 and 7 months of age. Symptoms include difficulty walking, difficulty eating, decreased muscle mass, an inability to fully open the jaw, and general muscle weakness. The disease is progressive, and euthanasia may be necessary due to poor quality of life.
References
Pubmed ID: 35962713
Year published: 2022
Omia ID: 1508
Omia variant ID:
Turnaround information
- 10 working days