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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Causative variant profile of collagen VI-related dystrophy in Japan

Fig. 4

Representative muscle pathology of patients with pathogenic variants in triple helical domains. Histology of muscle from a control individual (a, e), a member of Family #87 with UCMD and a large genomic deletion (b, f), a member of Family #72 with BM with a glycine substitution in the triple helical domain (c, g), and a member of Family #109 with UCMD with bi-allelic small deletions in COL6A3 (d, h). Hematoxylin and eosin, scale bar 20 μm. (ad) Immunostaining for collagen VI, scale bar 10 μm (eh).

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