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