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Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan
Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy which is fatal usually within ten years of symptom onset. The disease is caused by loss-of-function mutations in either of the two genes EPM...
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| Publicado no: | Int J Mol Sci |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5578133/ https://ncbi.nlm.nih.gov/pubmed/28800070 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18081743 |
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