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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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Detalhes bibliográficos
Main Authors: Tagliabracci, Vincent S., Turnbull, Julie, Wang, Wei, Girard, Jean-Marie, Zhao, Xiaochu, Skurat, Alexander V., Delgado-Escueta, Antonio V., Minassian, Berge A., DePaoli-Roach, Anna A., Roach, Peter J.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2007
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Acesso em linha: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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