- Title
-
Defective tubulation associated with the myopathy causing S619L DNM2 mutation
- Authors
- Gibbs, E.M., Davidson, A.E., Telfer, W.R., Feldman, E.L., and Dowling, J.J.
- Source
- Full text @ Dis. Model. Mech.
T-tubule and sarcoplasmic reticulum abnormalities in DNM2-S619L larval muscle. (A-D) Electron micrographs of longitudinal sections through zebrafish muscle at 3 dpf. (A,C) Muscle from DNM2-WT larvae shows the typical sarcomere striations of vertebrate striated muscle. (B,D) Muscle from DNM2-S619L larvae demonstrates extensive swelling and vacuolization in the region of the SR and T-tubules. Scale bars: 1 µm. (E-H) Confocal micrographs of isolated myofibers subjected to immunofluorescence analysis. (E) Wild-type (WT) myofiber showing the expected pattern of RyR1 staining. (F,G) RyR1 expression is irregular in DNM2-S619L myofibers, and is often found aggregated. (H) α-actinin staining was normal, indicating that other elements of the muscle structure in S619L myofibers are not disturbed. EXPRESSION / LABELING:
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