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Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
Lafora disease is a progressive myoclonus epilepsy with onset typically in the second decade of life and death within 10 years. Lafora bodies, deposits of abnormally branched, insoluble glycogen-like polymers, form in neurons, muscle, liver, and other tissues. Approximately half of the cases of Lafo...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
National Academy of Sciences
2007
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2148278/ https://ncbi.nlm.nih.gov/pubmed/18040046 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0707952104 |
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