Fig. 2
From: Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Light microscopic findings on TCF4-mutant muscle. H&E as well as Gomori stains show normal morphology. Increase of mitochondria in the subsarcolemmal region of some muscle fibres is indicated by NADH and COX-SDH stain. COX-negative fibers as not present. ATPase stain (pH 4.3) shows moderate increase of type I fibers occasionally organized in groups. This finding was confirmed by immunofluorescence studies of MYH7 labelling type I fibers. COX: cytochrome c oxidase; SDH: succinate dehydrogenase; HE: Hematoxylin and Eosin; Gomori: Gomori-Trichorme stain; NADH: Nicotinamid Adenin Dinucleotid Hydrid. Scale bars: 50 µm and in immunofluorescence stain of MYH7 100 µm