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X-Linked Myotubular Myopathy (XLMTM) is a severe neuromuscular disorder that that causes muscle weakness, difficulty eating and walking.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
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.
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.
Additional information
References
Pubmed ID: 35962713
Omia ID: 1508