DPAGT1 and myopathy: Fatigue induced in the TA muscle following a high number of stimulations together with a pronounced deficit in force produced by the diaphragm muscle from Gfpt1tm1d/tm1d mice, is indicative of a myopathy, and consistent with EMG recordings in patients with mutations in GFPT1 as well as other genes in the glycosylation pathway including ALG2, ALG14, DPAGT1 and GMPPB (1,2,4–9,12,23).