Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Keren J Carss, Elizabeth Stevens, A Reghan Foley, Sebahattin Cirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, Steven A Moore, Sonia Messina, Enrico Bertini, Carsten G Bönnemann, Jose E Abdenur, Carla M Grosmann, Akanchha Kesari, Jaya Punetha, Ros Quinlivan, Leigh B Waddell, Helen K YoungElizabeth Wraige, Shu Yau, Lina Brodd, Lucy Feng, Caroline Sewry, Daniel G MacArthur, Kathryn N North, Eric Hoffman, Derek L Stemple, Matthew E Hurles, Hans van Bokhoven, Kevin P Campbell, Dirk J Lefeber, Yung-Yao Lin, Francesco Muntoni*, UK10K Consortium, Sarah Metrustry

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

189 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology