Fig. 1.

Southern blot analysis demonstrates CGG repeat expansion in the LRP12 gene (A). Histopathological findings at age 80 years. In the biceps brachii muscle, modified Gomori trichrome staining demonstrates atrophic fibers with rimmed vacuoles (B). Electron microscopy reveals that a fibroblast adjacent to the degenerated muscles contains intranuclear inclusion (arrowhead) surrounded by amorphous rough halos without limiting membrane (C). High magnification of the area indicated by arrowhead in panel C demonstrates intermingled granulofilamentous profiles (D)]. Toluidine blue staining of the sural nerve indicates severe axonal loss (E) and p62-immunoreactive intranuclear inclusions (F). Electron microscopy shows identical intranuclear inclusions in the fibroblast (arrowhead) of the sural nerve as those in the biceps brachii muscle [low (G) and high (H) magnification]. Scale bars: 50 μm (B, E); 10 μm (F); 2 μm (C, G); 0.2 μm (D, H). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)