Immunofluorescence staining of the muscle biopsy from control subject and patient with p.Gly154Ser CRYAB mutation. Panels (A–C) (control), Panels (D–F) (patient). No focal areas of increased reactivity for αB-crystallin (Panel (A), green), desmin (Panel (B), green) and myotilin (Panel (C), green) in muscle fibers of control muscle. Focal accumulation of αB-crystallin (Panel (D), green), desmin (Panel (E), green) and myotilin (Panel (F), green) in two fibers of patient’s muscle biopsy. The percentage of fibers with aggregates is less than 15% of the total muscle fibers, and the percentage of the fiber area occupied by aggregates in the sections analyzed is 10.03 ± 2.15 for αB-crystallin, 5.78 ± 1.30 for desmin and 10.25 ± 0.81 for myotilin of the total muscle fiber area in this patient. Maackia amurensis lectin-II (MAL-II) staining (Panels (A–F), red) depicts the sarcolemma of muscle fibers. Images were obtained with obj ×20.
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