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Inherited Myopathy of Great Danes (IMGD) a.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
Inherited Myopathy of Great Danes (IMGD) a.k.a. Centronuclear myopathy 2 (CNM) or HMLR, is a rapidly progressive muscle myopathy. IMGD results from a recessive mutation in the bridging integrator 1 (BIN1) gene. Affected dogs suffer from a progressive muscle atrophy and have a decreased ability to perform physical exercise. Only 20% of affected dogs survive to adulthood with acceptable quality of life according to previous research data.
Kliniske egenskaper
Hunder med IMGD får symptomer fra ca seks måneder alder. Affiserte hunder er ikke i stand til å utføre fysisk trening og utvikler progressiv muskelatrofi.
Tilleggsinformasjon
Referanser
Pubmed ID: 23754947
Omia ID: 1660