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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Fig. 1

Pathologic changes and immunohistochemical staining of dystrophin in our enrolled patients. A Hematoxylin and eosin staining showing no pathologic changes. E, I, and M Hematoxylin and eosin staining showing a muscular dystrophic pattern. B–D A normal control showing positive dystrophin expression. F–H Patient 1 showing a severe reduction of dystrophin-N and dystrophin-C and a mild to partial reduction of dystrophin-R. J–L Patient 2 showing absence of dystrophin-N, absence with isolated revertant fibers of dystrophin-C, and absence with isolated revertant fibers and traces of dystrophin-R. N–P Patient 3 showing absence with a few revertant fibers of dystrophin-N, dystrophin-C, and dystrophin-R. A–D normal control; E–H patient 1; I–L patient 2; M–P patient 3

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