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. 2023 Apr 6;24(7):6808. doi: 10.3390/ijms24076808

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© 2023 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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Electron microscopy (EM) analysis of muscle biopsy material obtained from various affected individuals (p1 (p.Ser107Leu), p3 (p.Arg730His), p5 (p.Arg635Leu in BICD2 and p.Val758Met in FLNC), and p7 (p.Lys818Glu in BICD2 and p.Arg565Gln in COL6A1)) showed all had an advanced stage of myofibrillar breakdowns, lesions, and a massive presence of lysosomal vesicles, accompanied by enlarged polymorphic mitochondria and abundant autophagic vacuoles. In most myocytes, the sarcolemma appears with perforations and leaks, and the overall contractile apparatus shows only minor structural integrity. Scale bar: 1 μm.