Browsing Centre for Genomics and Child Health by Author "Macarthur, DG"
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Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
Moore, SA; Messina, S; Bertini, E; Bönnemann, CG; Abdenur, JE; Grosmann, CM; Kesari, A; Punetha, J; Quinlivan, R; Waddell, LB (2013-07-11)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 ...