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Lafora Disease: A Review of Molecular Mechanisms and Pathology
Lafora’s disease is a neurodegenerative disorder caused by recessive loss-of-function mutations in the EPM2A (laforin glycogen phosphatase) or EPM2B (malin E3 ubiquitin ligase) genes. Neuropathology is characterized by malformed precipitated glycogen aggregates termed Lafora bodies. Asymptomatic unt...
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| Gepubliceerd in: | Neuropediatrics |
|---|---|
| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2018
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6748624/ https://ncbi.nlm.nih.gov/pubmed/30336494 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1675238 |
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