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Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of disorders, with different subtypes caused by mutations in various genes that are involved in muscle structure and function.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 4 |
| Mutation | c.534_535delGA |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | LGMDR6; LGMD |
Información específica de la prueba
Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of disorders, with different subtypes caused by mutations in various genes that are involved in muscle structure and function. These mutations can disrupt the production of essential proteins in the muscles, leading to progressive muscle weakness and deterioration over time. Similarly, sarcoglycanopathy (SGCD) is a subtype of LGMD caused by mutations in the SGCD gene, which encodes a protein called sarcoglycan.
This variant of the disorder, found in a Boston Terrier, is caused by an autosomal recessive mutation to the gene SGCD.
Características clínicas
Puppies affected by Limb Girdle Muscular Dystrophy have marked muscle weakness and atrophy in the shoulders and hips, which manifests from an early age.
Información adicional
Several different deletions in the gene SGCD where identified as the cause of the disease. This variant seems to be a potentially spontaneous (de novo) recessive mutation found in one single Boston Terrier.
Referencias
Pubmed ID: 28702169
Year published: 2017
Omia ID: 2122
Omia variant ID: 802