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Canine Spongiform Leukoencephalomyelopathy (SLEM), also known as simply Leukodystrophy, is a severe degenerative neurological disease that causes weakness, paralysis and spastic movement.
10 días laborables
Especificaciones
| Breeds | Pastor ganadero australiano, Perro Pastor Shetland (Sheltie) |
|---|---|
| Gene | |
| Chromosome | MT |
| Mutation | c.14474G>A |
| Mode of Inheritance | Mitocondrial |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
Información específica de la prueba
Canine Spongiform Leukoencephalomyelopathy (SLEM), also known as simply Leukodystrophy, is a severe degenerative neurological disease that causes weakness, paralysis and spastic movement. The disorder is caused by a mitochondrial mutation to the cytochrome b (CYTB) gene, and is found in the Australian Cattle Dog and the Shetland Sheepdog.
Características clínicas
Los cachorros afectados generalmente comienzan a presentar temblores en todo el cuerpo aproximadamente a las 3 o 4 semanas de edad. Al principio son capaces de caminar, pero pierden progresivamente la coordinación a lo largo de varias semanas de desarrollo. Otros síntomas incluyen espasmos espásticos de las extremidades, caída de la mandíbula, dificultad para tragar, salivación excesiva, retraso en el crecimiento e incapacidad para caminar. La enfermedad es progresiva y los perros afectados suelen ser sacrificados por motivos humanitarios.
Información adicional
The mutation in the CYTB gene follows a mitochondrial inheritance pattern. This means that the disorder is transmitted exclusively through the maternal line, as only mothers contribute mitochondria to their offspring. Consequently, all offspring of an affected female will inherit the mutation, whereas males carrying the mutation do not pass it on to their progeny.
Referencias
Pubmed ID: 16026996
Year published: 2006
Omia ID: 2684
Omia variant ID: