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Type 1 Myotubular Myopathy, also known as X-Linked Myotubular Myopathy (XLMTM) is a severe muscular disorder that causes general weakness of the limbs and head.
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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
Type 1 Myotubular Myopathy, also known as X-Linked Myotubular Myopathy (XLMTM) is a severe muscular disorder that causes general weakness of the limbs and head. It is caused by an X-linked recessive mutation to the gene MTM1. The variant of the disease analysed in this test occurs in the Boykin Spaniel. Closely related variants also occur in the Labrador Retriever and Rottweiler.
Clinical features
Affected puppies present in the first few months of life with tetraparesis (weakening of all four limbs), as well as difficulty holding up the head and closing the mouth. The disease is progressive, and euthanasia due to poor quality of life is likely necessary.
Additional information
References
Pubmed ID: 32417001
Omia ID: 1508
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