Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
GMPPB 突变会导致先天性肌无力综合征，并将肌无力疾病与肌营养不良症联系起来
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awv185
Katsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E Farrugia, Richard Petty, Timothy J Walls, Maryam Sedghi, Keivan Basiri, Wyatt W Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Ja
