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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Vydáno v:Brain
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
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Original Articles
On-line přístup: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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