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Myelin is a fat-rich compound that surrounds the axon of certain nerve cells and thus enables faster propagation of action potentials.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
Myelin is a fat-rich compound that surrounds the axon of certain nerve cells and thus enables faster propagation of action potentials. Insufficient myelin (known as hypomyelination) disrupts this process, leading to neurological symptoms.
The variant of the disorder analysed in this test is found in the Weimaraner, and is caused by a recessive mutation to the gene FNIP2.
Caratteristiche cliniche
Hypomyelination causes tremors in puppies during their early stages of life. This is also known as “shaking puppies” as affected puppies of 2 weeks old begin to experience tremors. These tremors occur until the dogs are 3 to 4 months old. Then they disappear in most cases, though some dogs retain a persistent fine tremor of the hind legs.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 24272703
Omia ID: 526