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Functional α-DG Glycosylation Is Reduced in Individuals with B3GALNT2 Mutations
An examination of skeletal muscle cryosections from control, P1, and P2 revealed that glycosylated α-DG is reduced in individuals with B3GALNT2 mutations (P1 and P2) whereas β-DG was well preserved. Staining with the GT20ADG antibody against the core α-DG protein showed that the core was better preserved in P2 than in P1 as some variability was seen among the fibers.
