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Limb Girdle Muscular Dystrophies (LGMD) is 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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
Limb Girdle Muscular Dystrophies (LGMD) is 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, sarcoglycanopathies (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 the Boston Terrier, is caused by a recessive mutation to the gene SGCD.
Caractéristiques cliniques
Puppies affected by Limb Girdle muscular dystrophies have marked muscle weakness and atrophy in the shoulder and hips, which manifests from an early age.
Additional Information
Plusieurs délétions différentes dans SGCD où identifié comme la cause de la maladie.
Références
Pubmed ID: 28702169
Omia ID: 2122