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Exercise-induced collapse (EIC) is an autosomal, recessive neuromuscular disorder.
Working days 15
Specifiche
| Breeds | Boykin Spaniel, Chesapeake Bay Retriever, Curly-coated retriever, Labrador Retriever, Welsh Corgi Pembroke |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Exercise-induced collapse (EIC) is an autosomal, recessive neuromuscular disorder. The disorder is caused by a mutation in the dynamin 1 (DNMI1) gene, which causes an substitution in a highly conserved region of the protein. The dynamin 1 protein is functional in neurotransmission and synaptic vesicle endocytosis.
Caratteristiche cliniche
Clinical features are characterised by muscle weakness and life-threatening collapse after intense excercise. Collapse episodes generally last for 10 minutes and the dogs fully recover mostly after 30 minutes. Occasionally are the symptoms fatal.
Informazioni aggiuntive
This test is based on an association study.
This test is performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In this case, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.
Riferimenti
Pubmed ID: 18806795
Omia ID: 1466