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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Detalles Bibliográficos
Autores principales: Sullivan, Mitchell A., Nitschke, Silvia, Steup, Martin, Minassian, Berge A., Nitschke, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578133/
https://www.ncbi.nlm.nih.gov/pubmed/28800070
http://dx.doi.org/10.3390/ijms18081743

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