Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye defects in addition to muscular dystrophy. Causative variants in 14 genes thought to be involved in the glycosylation of α-DG have been identifie...

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Päätekijät: Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2013
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3710768/
https://ncbi.nlm.nih.gov/pubmed/23768512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.05.009
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