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Limb girdle muscular dystrophies (LGMD, SGCD) are a heterogeneous group of disorders, which mainly affect muscles of the shoulders and hips, but heart and respiratory muscles can also be involved.
10 working days
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Limb girdle muscular dystrophies (LGMD, SGCD) are a heterogeneous group of disorders, which mainly affect muscles of the shoulders and hips, but heart and respiratory muscles can also be involved. A group of severe, recessive LGMDs are the Sarcoglycanopathies. They are caused by mutations in one of the six known sarcoglycan genes and result in sarcoglycan deficiency.
Clinical features
Dogs with Limb Girdle muscular dystrophies have are marked muscle weakness and atrophy in the shoulder and hips. The symptoms are already occurring during puppyhood.
Additional information
Several different deletions in SGCD where identified as the cause of the disease.
References
Pubmed ID: 28702169
Omia ID: 2122
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