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Exercise-induced collapse (EIC) is an autosomal, recessive neuromuscular disorder.
15 working days
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Caractéristiques
Breeds | Retriever à poil bouclé, Retriever de la baie de Chesapeake, Boykin Spaniel, Labrador Retriever, Welsh Corgi Pembroke |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
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.
Références
Pubmed ID: 18806795
Omia ID: 1466