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Lafora disease in miniature Wirehaired Dachshunds

Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The disease is due to a mutation in the Epm2b gene which results in intracellular accumulation of abnormal glycogen (Lafora bodies). Recent breed-wid...

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Detalles Bibliográficos
Autores principales: Swain, Lindsay, Key, Gill, Tauro, Anna, Ahonen, Saija, Wang, Peixiang, Ackerley, Cameron, Minassian, Berge A., Rusbridge, Clare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540395/
https://www.ncbi.nlm.nih.gov/pubmed/28767715
http://dx.doi.org/10.1371/journal.pone.0182024