GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

Figure 1

(a) Note the marked variation in fiber size and shape (HE ×200). (b) There are several rimmed vacuoles in the muscle biopsy specimen of Case  1 (Modified Trichrome ×200). (c) Note the plenty of immature fibers with neonatal myosin (DAB ×100). (d) Combined enzyme staining represents normal mitochondrial function (COX+SDH ×400).

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