An empirical pipeline for personalized diagnosis of Lafora disease mutations

Lafora disease (LD) is a fatal childhood dementia characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset. Mutations in either EPM2A, encoding the glycogen phosphatase laforin, or EPM2B, encoding the...

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Detalles Bibliográficos
Autores principales: Brewer, M. Kathryn, Machio-Castello, Maria, Viana, Rosa, Wayne, Jeremiah L., Kuchtová, Andrea, Simmons, Zoe R., Sternbach, Sarah, Li, Sheng, García-Gimeno, Maria Adelaida, Serratosa, Jose M., Sanz, Pascual, Vander Kooi, Craig W., Gentry, Matthew S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8564118/
https://www.ncbi.nlm.nih.gov/pubmed/34755096
http://dx.doi.org/10.1016/j.isci.2021.103276

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8564118/
https://www.ncbi.nlm.nih.gov/pubmed/34755096
http://dx.doi.org/10.1016/j.isci.2021.103276

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