File:12920 2023 1472 Fig3 HTML.webp

English: X-ray radiography and leg muscle MRI of the proband. (a, b, e) X-ray radiography of thoracic and lumbar vertebrae as well as hips was normal and showed no fractures. (c, d, f, g) X-ray radiography of the knees showed soft tissue swelling and ankles showed talipes calcaneovarus and poor alignment of the tibial talus joints. (h) Coronal T1W MRI of calf muscle with severe atrophy and fatty infiltration. Bone marrow oedema of the left calcaneus resulting from the ankle fixation braces that the proband had worn for a long time can be seen. (i) Coronal T1W MRI of distal thigh muscle with severe atrophy and fatty infiltration in posterior thigh muscles. (j) Axial T2W MRI of calves with severe atrophy and subcutaneous fat thickening