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Immunohistochemical analysis of muscle tissue in patients with TTN mutations. Accumulation of dystrophin (a), myotilin (b), and filamin C (c and e) in fiber regions containing cytoplasmic bodies. Desmin (d) is focally increased at the periphery of cytoplasmic bodies but not within them. Aggregates of TDP43 (f) are seen adjacent to rimmed vacuoles (arrow in f) and around the cytoplasmic bodies.
