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Gangliosidosis (GM2 Type II – 2) is a lysosomal storage disease in which there is a buildup of GM2 gangliosides (a type of glycolipid) in various tissues.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Tipo di Ereditarietà | Autosomico recessivo |
| Cromosoma | A1 |
| Tipo di Ereditarietà | GM2, variant 0, Sandhoff |
| Anno di pubblicazione |
Informazioni generali
Gangliosidosis (GM2 Type II – 2) is a lysosomal storage disease in which there is a buildup of GM2 gangliosides (a type of glycolipid) in various tissues.
This variant is for the Japanese Domestic cat breed.
Caratteristiche cliniche
Cats affected with GM2 show progressive neuromuscular dysfunction and impaired growth from an early age. Affected kittens have head tremors at the beginning followed by impaired coordination of leg movements which eventually lead to paralysis.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 16872651
Omia ID: 1462