Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we...

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Detalles Bibliográficos
Autores principales: Belaya, Katsiaryna, Rodríguez Cruz, Pedro M., Liu, Wei Wei, Maxwell, Susan, McGowan, Simon, Farrugia, Maria E., Petty, Richard, Walls, Timothy J., Sedghi, Maryam, Basiri, Keivan, Yue, Wyatt W., Sarkozy, Anna, Bertoli, Marta, Pitt, Matthew, Kennett, Robin, Schaefer, Andrew, Bushby, Kate, Parton, Matt, Lochmüller, Hanns, Palace, Jacqueline, Muntoni, Francesco, Beeson, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547052/
https://www.ncbi.nlm.nih.gov/pubmed/26133662
http://dx.doi.org/10.1093/brain/awv185

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