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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Veröffentlicht in:Brain
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
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Original Articles
Online Zugang: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
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