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X-Linked Myotubular Myopathy (XLMTM) in Rottweilers is a severe muscle disorder that often requires euthanasia.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | X |
| Mutation | c.1151A |
| Mode of Inheritance | X-Linked Recessive |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | XLMTM |
Informations générales
X-Linked Myotubular Myopathy (XLMTM) in Rottweilers is a severe muscle disorder that often requires euthanasia. This variant, caused by an X-linked recessive mutation to the gene MTM1, has as of yet (2025) only been observed in Australian Rottweilers. Related variants have been observed in the Labrador Retriever and the Boykin Spaniel.
Caractéristiques cliniques
Affected puppies typically start displaying poor muscle growth and progressive weakness between 7 and 13 weeks of age. They behave and eat normally, but tire easily and have difficulty raising their heads or standing. Cold and stress worsen symptoms, which also increase in severity over time. Affected dogs are typically euthanized on humane grounds.
Additional Information
The XLMTM is X-linked resessive which means that in females, who have two X chromosomes, both copies of the allele need to be present for the trait to be expressed. In males, who have only one X chromosome, a single copy of the recessive allele is sufficient for the trait to be expressed. Therefore affected males always pass on their copy of the mutation to their daughters, but never to their sons.
Références
Pubmed ID: 25664165
Year published: 2015
Omia ID: 1508
Omia variant ID: 91