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. 2019 May 6;14:100. doi: 10.1186/s13023-019-1071-z

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© The Author(s). 2019

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 2 — Morphological alterations in muscle biopsies from patients P1 (a, f, k, p), P5 (b, g, l, q), P9 (c, h, m, r), P14 (D, i, n, s) and P16 (e, j, o, t). a-e H&E shows dystrophic features in all cases with mild endomysal fibrosis, adipose tissue replacement, atrophy and necrotic fibers. Ragged-red fibers are frequently identified in all muscle samples (arrows). f-j Gomori trichrome showed the characteristic ragged-red fibers in all the biopsies. k-o Succinate dehydrogenase (SDH) reveals an increase of the oxidative staining in numerous fibers. p-t Frequent cytochrome C oxidase (COX) deficient fibers are present in variable proportion in the different cases (p and r, COX staining; o, s and t, COX-SDH combined staining). Scale bar =100 μm