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Mitochondrial Fission Encephalopathy (MFE) is a congenital brain disorder that causes hydrocephalus, loss of coordination and abnormal behaviour.
10 Arbeidsdager
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Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 25 |
| Mutation | c.471_475delinsCGCTCT |
| Mode of Inheritance | Automatisk resessiv |
| Organ | |
| Specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Also known as | MFE |
Generell informasjon
Mitochondrial Fission Encephalopathy (MFE) is a congenital brain disorder that causes hydrocephalus, loss of coordination and abnormal behaviour. It is also known as Cerebellar Ataxia, Familial Cerebellar Ataxia, and Progressive Neuronal Abiotrophy (Ataxia).
In the Bullmastiff, a variant of this disorder is caused by a recessive mutation to the gene MFF.
Kliniske egenskaper
Affected dogs begin developing signs of hydrocephalus at an age of several months. Symptoms are progressive in nature, and can include an uncoordinated gait, abnormal behaviour such as barking at imaginary objects and failure to interact with other dogs, decreased vision, and nystagmus (wobbling eyes). The disease is severe, and is likely to result in death or require euthanasia on humane grounds within several months.
Tilleggsinformasjon
Referanser
Pubmed ID: 36085405
Year published: 2022
Omia ID: 2551
Omia variant ID: