Article
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Brain : a journal of neurology - 1 Sept 2015
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
Abstract excerpt
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 identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome. First, we...
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