Figure 3.

Pathological characteristics of GNE myopathy. (a) Red-rimmed cytoplasmic vacuoles showed by arrows (Gomori trichrome, high power, patient 9c muscle biopsy from right anterior tibialis). (b) Group atrophy (arrow) associated with prominent cytoplasmic vacuoles (arrowheads; H&E, high power, patient 9c muscle biopsy from right anterior tibialis). (c) Large group atrophy (arrow) resembling ‘spinal muscular atrophy' (H&E, medium power, patient 11b muscle biopsy from left biceps). (d) Dispersed or small group of angulated atrophic fibers (arrow) resembling ‘neurogenic atrophy' (H&E, high power, patient 8 muscle biopsy from left biceps). The full colour version of this figure is available at European Journal of Human Genetics online.