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. 2019 Jun 11;6(7):1225–1238. doi: 10.1002/acn3.50801

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© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Muscle biopsy of patients with anoctaminopathy. Unspecific myopathic findings in patient #1.1 characterized by mild fiber size variability, increase in endomysial connective tissue, and increase in nuclei internalization (A) (H&E). More severe myopathic features (dystrophic aspect) in patient #2 (B) (H&E). Preserved muscle architecture with the presence of grouped necrotic fibers (C) (arrow heads) in patient #4; sparse necrotic fibers (D) in patient #26 (degeneration fiber with macrophagy indicated by the black arrowhead and without macrophagy indicated by the white arrowhead) (H&E). Bar = 50 µm (A, B and C); Bar = 20 µm (D).