Fig. 1.

Adipogenic replacement of muscle correlates with disease severity in dysferlinopathic patients and mice. Mild, moderate, and severely dystrophic LGMD2B patient and non-dystrophic control muscle cross-section stained with a Oil Red O or for b Perilipin-1 protein. c Confocal images of LGMD2B patient muscle sections showing that perilipin-1 marked lipid deposits (red) accumulate outside the boundaries of laminin-marked myofiber borders (green). Scale bar = 20 µm. d 12Mo B6A/J TA, gastrocnemius, quadriceps, and psoas muscles stained for perilipin-1. Scale Bar = 100 µm. Quantification (mean ± SD) of e myofiber central nucleation and f perilipin-1 area across 12Mo B6A/J muscles. Statistical comparisons performed via t-test between adjacent groups, n = 4 muscles/group. Quantification (mean ± SD) of g myofiber central nucleation and h perilipin-1 area from B6A/J gastrocnemius with advancing age/pathology, n = 4 mice/group. Statistical comparisons performed via ANOVA with Holm–Sidak multiple comparisons test for all means with that of 12Mo WT, *p < 0.05 **p < 0.01, ***p < 0.001. i Oil Red O and j Perilipin-1 labeling of gastrocnemius from 6, 12, and 18Mo B6A/J and 12Mo WT. Scale bar = 100 µm. k Confocal image of gastrocnemius muscle sections showing that perilipin-1 marked lipid deposits (red) localize outside the boundaries of laminin-marked myofiber borders (green) in 12Mo B6A/J. Scale bar = 20 µm