Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Document Type
Journal Article
Publication Date
7-11-2013
Student Program
IBS
Journal
American Journal of Human Genetics
Volume
93
Issue
1
Inclusive Pages
29-41
DOI
10.1016/j.ajhg.2013.05.009
Keywords
Animals; Child, Preschool; DNA Mutational Analysis; Dystroglycans; Eye Abnormalities; Female; Fibroblasts; Genetic Association Studies; Glycosylation; Guanosine Diphosphate Mannose; Heterozygote; Humans; Infant; Infant, Newborn; Male; Muscle, Skeletal; Muscular Dystrophies, Limb-Girdle; Mutation, Missense; Nucleotidyltransferases; Zebrafish
APA Citation
Carss, K., Stevens, E., Foley, A., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., van Scherpenzeel, M., Moore, S., Messina, S., Bertini, E., Bönnemann, C., Abdenur, J., Grosmann, C., Kesari, A., Punetha, J., Quinlivan, R., Waddell, L., Young, H., Wraige, E., Yau, S., Brodd, L., Feng, L., Sewry, C., MacArthur, D., North, K., Hoffman, E., Stemple, D., Hurles, M., van Bokhoven, H., Campbell, K., Lefeber, D., Lin, Y., & Muntoni, F. (2013). Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.. American Journal of Human Genetics, 93 (1). http://dx.doi.org/10.1016/j.ajhg.2013.05.009
Peer Reviewed
1
