A: HPLC analysis of 2-AA labeled GSL-derived oligosaccharides
purified from control (n=3) and GNE myopathy patients’ plasma (n=2; both
harboring a homozygous p.M712T mutation in GNE). Peak numbers correspond to
structures in Fig. 1A. Chromatograms are
adjusted for total protein.
B: Total GSL concentrations from control and patients’
plasma.
C: Plasma concentrations of individual GSL species, as outlined in
A.