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Genetics of Lafora progressive myoclonic epilepsy: current perspectives
Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of Lafora bodies (LBs). LBs are aggregates of polyglucosan, a long...
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| Veröffentlicht in: | Appl Clin Genet |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Dove Medical Press
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4859416/ https://ncbi.nlm.nih.gov/pubmed/27194917 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S57890 |
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