X-linked Myotubular Myopathy (XLMTM) – Boykin Spaniel
Code: H859
Short description
X-Linked Myotubular Myopathy (XLMTM), also known as Type 1 Myotubular Myopathy is a severe muscular disorder that causes general weakness of the limbs and head.
General information
X-Linked Myotubular Myopathy (XLMTM), also known as Type 1 Myotubular Myopathy 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 and are offered as separate tests.
Specifications
| Breeds | |
|---|---|
| Gene | MTM1 |
| Chromosome | X |
| Mutation | c.1467C>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
| Also known as | XLMTM |
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.
References
Pubmed ID: 32417001
Year published: 2020
Omia ID: 1508
Omia variant ID:
Turnaround information
- 15 working days