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X-Linked Myotubular Myopathy (XLMTM) in Rottweilers is a severe muscle disorder that often requires euthanasia.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | X |
| Mutation | c.1151A |
| Mode of Inheritance | Recesivo ligado al Cromosoma X |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | XLMTM |
Información específica de la prueba
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.
Características clínicas
Los cachorros afectados suelen empezar a mostrar un crecimiento muscular deficiente y una debilidad progresiva entre las 7 y las 13 semanas de edad. Se comportan y comen normalmente, pero se cansan fácilmente y tienen dificultades para levantar la cabeza o ponerse de pie. El resfriado y el estrés empeoran los síntomas, que también aumentan en gravedad con el tiempo. Los perros afectados suelen ser sacrificados por motivos humanitarios.
Información adicional
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.
Referencias
Pubmed ID: 25664165
Year published: 2015
Omia ID: 1508
Omia variant ID: 91