European Journal of Human Genetics

FIGURE 1

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Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Helen AL Tuppen, Karin Naess, Nancy G Kennaway, Mazhor Al-Dosary, Nicole Lesko, John W Yarham, Helene Bruhn, Rolf Wibom, Inger Nennesmo, Richard G Weleber, Emma L Blakely, Robert W Taylor and Robert McFarland

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Figure 1.

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Skeletal muscle histochemistry and histology. (a, b) COX-SDH staining of the 2009 skeletal muscle biopsy from patient 1 and mother, respectively. Blue-staining fibres indicate reduced COX activity. (c) Gomori trichrome staining of the 2009 patient 1 skeletal muscle biopsy. (d) Electron micrograph of the 2009 patient 1 skeletal muscle biopsy. Arrows indicate the presence of dense inclusions. Magnification x 24000. (eh) Staining of skeletal muscle from patient 2 for COX, SDH, Gomori trichrome and NADH-tetrazolium reductase, respectively.

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