Inherited Myopathy of Great Danes (IMGD) / Centronuclear Myopathy (CNM, HMLR)
Code: H368
Short description
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.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | BIN1 |
| Chromosome | 19 |
| Mutation | c.786-2A>G |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | IMGD |
Clinical features
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.
References
Pubmed ID: 23754947
Year published: 2013
Omia ID: 1660
Omia variant ID:
Turnaround information
- 15 working days