case_images: PMC11345194_01
case_images: PMC11345194_02
case_images: Clinical features and muscular MRI of patient II-3. (A) Winged scapulae, atrophy of the deltoid, inner muscles of the thigh and right calf, and left calf pseudo-hypertrophy are shown. (B) The affected glutei/iliopsoas muscles (A), vastus lateralis/gracilis (B), adductors/biceps femoris/semitendinosus and semimembranosus muscles (C), and gastrocnemius/soleus (D) were presented through muscular MRI.
case_images: fgene-15-1410727-g001.jpg
case_images: PMC11345194_02_fgene-15-1410727-g001.jpg
case_images: F1
case_images: On physical examination, the patient's deltoid muscle, proximal thigh, and right calf were atrophic (Figure 1A). Muscular MRI of the lower limb showed that the glutei/iliopsoas muscles, vastus lateralis/gracilis, adductors/biceps, femoris/semitendinosus and semimembranosus muscles, and gastrocnemius/soleus were affected (Figure 1B). Muscle fibers became thinner, accompanied by fat infiltration and edema.