Fig. 4

Mitochondrial alterations in EBS-MD muscle. a Skeletal muscle specimens from a healthy control and EBS-MD patients were histologically double-stained for SDH and COX. Note the presence of “rubbed-out” areas (arrows), and the presence of COX-negative fibers in patient 3 (arrowheads). Scale bar: 50 μm. b Confocal imaging of mitochondrial respiratory complex IV-stained skeletal muscle specimens from a healthy control and EBS-MD patients. Panels i-iv are magnifications of the boxed areas in panel b. Note the reduced staining intensity in all EBS-MD samples. Scale bars: 50 μm (b), 25 μm (panels i-iv). c Immunoblotting of cell lysates prepared from EBS-MD patients and three healthy controls using antibodies for mitochondrial respiratory complex II or V. α-Actinin was used as loading control. d Signal intensities of respiratory complex II or V protein bands as shown in (c) were densitometrically measured and normalized to the total protein content (assessed by α-actinin staining). Healthy controls (dashed line) are set to 100 %. Mean values ± SEM, 3 replicates