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. 2023 Oct 20;16:253. doi: 10.1186/s12920-023-01586-9

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. 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 in a credit line to the data.

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Fig. 2 — MR image and pathology of patient III-42. (A–B) T1-weighted MR images of thigh of index patient. A. image obtained in 2018; B. image obtained in 2021. Fatty infiltration in inner muscles was obvious in 2021, compared with almost no lesion in thigh muscles in 2018. C-D Gadolinium-enhanced cardiac MR imaging. Delayed myocardial enhancement was found in the middle of left ventricular wall (red arrow head). (E–H Skeletal muscle pathology in OPDM. E–F Haematoxylin and eosin staining showed mild variation in fiber size and rimmed vacuoles. (black arrow head), E. Magnification X20; F. magnification X20. G-H Modified Gomori Trichome staining demonstrated rimmed vacuoles. (black arrow head) G-H magnification X40