Fig. 5
From: Causative variant profile of collagen VI-related dystrophy in Japan
The highly sensitive detection of collagen VI in patients’ muscles showing complete deficiency by routine immunostaining. The highly sensitive immunofluorescence staining for collagen VI (green), PDGFRα (red), and laminin α2 (blue) in muscles of patients showing complete collagen VI deficiency (a, Family #64; b, Family #67; c, Family #109; d, Family #61; e, Family #62). Scale bar, 10 μm. Highly magnified immunofluorescence images showed that collagen VI formed small deposits in the extracellular space in muscles from patients with truncated variants in both alleles (a–c), while in patients with an in-frame deletion in at least one allele, the collagen VI was retained within mesenchymal cells (d, e).