Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Neuropediatrics |
|---|---|
| Prif Awduron: | , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2018
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| Pynciau: | |
| Mynediad Ar-lein: | 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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