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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Brain
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2015
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4547052/
https://ncbi.nlm.nih.gov/pubmed/26133662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv185
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars