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Inherited Myopathy of Great Danes (IMGD) a.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 19 |
| Mutation | c.786-2A>G |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | IMGD |
Informations générales
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.
Caractéristiques cliniques
IMGD presents at an age of onset around six months. Affected dogs are unable to perform physical exercise, display exercise-induced muscle tremors, and develop progressive muscle atrophy.
Additional Information
Références
Pubmed ID: 23754947
Year published: 2013
Omia ID: 1660
Omia variant ID: 398