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Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy

Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness. In the early 2000s, a new classification of muscular dystrophy, dystroglycanopathy, was established. Dystroglycanopathy often associates with abnormalities in the central nervous system. Currently, at le...

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Detalles Bibliográficos
Autores principales: Kanagawa, Motoi, Toda, Tatsushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701763/
https://www.ncbi.nlm.nih.gov/pubmed/29081423
http://dx.doi.org/10.3233/JND-170255