Limb-Girdle Muscular Dystrophy 2D (LGMD2D) – Dachshund
Kodas: H816
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Short description
Limb-Girdle Muscular Dystrophy, Type 3 (LGMDR3) is a form of muscle dystrophy (MD) occurring in the Miniature Dachshund.
General information
Limb-Girdle Muscular Dystrophy, Type 3 (LGMDR3) is a form of muscle dystrophy (MD) occurring in the Miniature Dachshund. The disorder causes general muscle stiffness, difficulty eating and exercise intolerance. It is caused by a recessive mutation to the gene SGCA.
Specifications
| Breeds | |
|---|---|
| Gene | SGCA |
| Chromosome | 9 |
| Mutation | c.224G>A |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | LGMDR3 |
Clinical features
Affected dogs present as young adults with symptoms including exercise intolerance, progressively weakening muscles, difficulty eating, and pneumonia.
References
Pubmed ID: 33407862
Year published: 2021
Omia ID: 2305
Omia variant ID:
Turnaround information
- 10 working days