Fig. 1

Expressing nebulin’s Z-disk region in control (CTRL) and nebulin-deficient (Neb cKO) mice. a Sarcomere highlighting nebulin wrapped around the thin filament (top), the structure of nebulin (middle), and nebulin’s Z-disk fragment (bottom). b Representative Western blot for FLAG tag signal (139.9 kDa) in AAV-treated and vehicle-treated muscles in CTRL and Neb cKO mice. Two AAV dosages were used. (1×, 1 × 10¹¹ vg; 3×, 3 × 10¹¹ vg). c, d FLAG expression at 1× (c) and 3× (d) dosages of the AAV in TC (top) and EDL (bottom). AAV treatment resulted in construct expression in both TC and EDL of CTRL and Neb cKO mice. (1×: n = 5, 6 mice; 3×: 4, 9 mice). e Analysis of AAV dosage effect (1× and 3×) and genotype (CTRL and Neb cKO) in TC (top) and EDL (bottom) muscles. A two-way ANOVA reveals no dosage effect but a genotype effect with higher expression in Neb cKO mice compared to CTRL mice. ns, non-significant (comparison between 1× and 3× dose). TC, tibialis cranialis; EDL, extensor digitorum longus; L, left (PBS-injected); R, right (AAV-injected)