Fig. 2

Pathology, revealed by electron microscopy and disease spectrum. Anti-poly-ubiquitinated protein antibody (a), anti-caveolin-3 antibody (b, f, j), DAPI (c, g, k), anti-SUMO-1 antibody (e), and anti-p62 (i) are stained. d, h, l show merged immunohistochemistry. a–l Scale bars denote 10 µm. On EM, a longitudinal section shows tubulofilamentous inclusions within the myonuclei together with markedly disorganized myofibrils (arrow) in the surrounding area (m, n). m Scale bar denotes 5 µm. n Scale bar shows 500 nm. o, q HE, p, r p62 are stained on serial sections of the skin sample in patient 1. Intranuclear inclusions with p62-positive in sweat gland cells (p) and adipocytes (r) are seen. o–r Scale bars denote 20 µm. s Disease spectrum caused by CGG expansion in NOTCH2NLC