A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

Dystroglycan, which serves as a major extracellular matrix receptor in muscle and the central nervous system, requires extensive O-glycosylation to function. We identified a dystroglycan missense mutation (Thr192→Met) in a woman with limb-girdle muscular dystrophy and cognitive impairment. A mouse m...

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Auteurs principaux: Hara, Yuji, Balci-Hayta, Burcu, Yoshida-Moriguchi, Takako, Kanagawa, Motoi, de Bernabé, Daniel Beltrán-Valero, Gündeşli, Hülya, Willer, Tobias, Satz, Jakob S., Crawford, Robert W., Burden, Steven J., Kunz, Stefan, Oldstone, Michael B.A., Accardi, Alessio, Talim, Beril, Muntoni, Francesco, Topaloğlu, Haluk, Dinçer, Pervin, Campbell, Kevin P.
Format: Artigo
Langue:Inglês
Publié: 2011
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3071687/
https://ncbi.nlm.nih.gov/pubmed/21388311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1006939
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