Skip to main content
. 2025 Apr 7;16:1559773. doi: 10.3389/fgene.2025.1559773

FIGURE 2.

FIGURE 2

Histological findings in the patient’s muscle. (A) MGT and (B) H&E staining revealed fiber size variability and centronuclear fibers. (C) Longitudinal MGT section showed numerous nuclei accumulating in rows. (D) Oil red O staining revealed increased content of lipid droplets in numerous fibers. (E) NADH dehydrogenase staining showed a radial strand fiber (asterisk). (F) Semi-thin sections showed the presence of a “necklace fiber” (hashtag) and numerous fibers with an increase in lipid contents. Scale bar, 20 µm. Immunofluorescence staining showed positivity for the membrane proteins NH-dystrophin (G), spectrin (H), and caveolin-3 (I) associated with the cytoplasmic vacuolar structures, except for laminin-α2 (J). Altered distribution for αB-crystallin (K) in several fibers and increased deposition of myotilin (L) in necklace fibers. The cytoplasmic vacuolar structures showed marked positivity for C5b9 (M), lamp-2 (N), and p62 (O). DAPI for counterstaining of nuclei. Scale bar, 20 µm.