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. 2022 Mar 4;13:840683. doi: 10.3389/fneur.2022.840683

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Copyright © 2022 Costa, Rodia, Pacilio, Angelini and Cenacchi.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Muscle biopsy. (A) Hematoxylin-eosin stain shows marked fiber atrophy, clusters of pyknotic nuclei, and occasional central nuclei (magnification 20×). (B) Immunofluorescence (IF) for TNPO3 (red) shows nuclear/perinuclear and cytoplasmic positivity; nuclei are stained with DAPI (blue); magnification 60×. (C) IF for SRSF1 (green) shows cytoplasmic and subsarcolemmal aggregates positive for SRSF1; nuclei are stained with DAPI (blue); magnification 60×. (D) Electron microscopy showing myofibrillar disarray (scale bar: 2,000 nm).