Figure 2
Muscle biopsy. (A) Severe variation in fiber calibre, showing groups of atrophic fibers (arrow) and groups of hypertrofic fibers (HE 100x). (B) Frequent rimmed vacuoles (arrows) with basophilic material (HE 400×). (C) Immunohistochemical reaction with complete telethonin deficiency. Inset presents strong normal sarcolemmal reaction in control muscle (Antibody anti-telethonin (G-11): sc-25327, Santa Cruz Biotechnology, Inc., at 1:50 dilution). (D, E, F) Serial frozen sections of the same muscle fibers (arrows) showing irregular dystrophin carboxy-terminus reaction (E) (D - Rod-domain anti-dystrophin antibody (NCLDYS1 Novocastra at 1:20 dilution), E - Carboxy-terminus anti-dystrophin antibody (NCLDYS2 Novocastra at 1:20 dilution), F - Amino-terminus anti-dystrophin antibody (NCLDYS3 Novocastra at 1:20 dilution), (G) Muscle tissue shows autophagic vacuoles (arrows) with membrane debris and myelinoid figures (transmission electron microscopy 5000x), (H) Atrophic muscle fiber with myofibrillar disorganization, and few residual sarcomeres with distinguishable Z lines (arrows) (transmission electron microscopy 6000x).