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Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)

OBJECTIVE: In this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression in muscle were examined in patients with limb-girdle muscular dystrophy (LGMD) type 2T. METHODS: Six new patients with genetically verified mutations in GMPPB were studied....

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Detalles Bibliográficos
Autores principales:	Oestergaard, S.T., Stojkovic, T., Dahlqvist, J.R., Bouchet-Seraphin, C., Nectoux, J., Leturcq, F., Cossée, M., Solé, G., Thomsen, C., Krag, T.O., Vissing, J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061416/ https://www.ncbi.nlm.nih.gov/pubmed/27766311 http://dx.doi.org/10.1212/NXG.0000000000000112

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