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....

Descripción completa

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

Internet

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

Ejemplares similares