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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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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
Puppies affected by Limb Girdle muscular dystrophies have marked muscle weakness and atrophy in the shoulder and hips, which manifests from an early age.
Informazioni aggiuntive
Molteplici delezioni in SGCD sono state identificate come causa della malattia.
Riferimenti
Pubmed ID: 28702169
Omia ID: 2122