PMC6965354_01
Right quadriceps muscle biopsy findings. Hematoxylin and eosin (A) and modified Gomori trichrome (B) stained sections demonstrating variation in fiber size, increased endomysial and perimysial connective tissue, rimmed vacuoles, and hyaline inclusions with increased immunoreactivity for desmin (C), dystrophin (D), alphaB-crystallin (E) and myotilin (F), indicating a myofibrillar myopathy. Scale bar = 50 mum.
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F1
A repeat muscle biopsy of the right quadriceps showed findings typical of MFM (Figure 1).
MRI findings. Axiat T1-weighted MRI images of the proximal thigh (A), largest diameter of the mid-thigh (B) and largest diameter of the mid-calf (C) demonstrate grade IV (>50% of the muscle) atrophy and fatty replacement of the tensor fasciae latae (A:red), semitendinosus (B:blue), sartorius (B:yellow), gracilis (B:green), gastrocnemius (C:orange), soleus (C:purple), and peroneus longus (C:tan) muscles. The biceps femoris (B:arrow), semimebranosus (B:arrowhead), and tibialis anterior (C:open arrow) are relatively spared.
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F2
A muscle MRI demonstrated atrophy and fatty replacement most severely affecting the tensor fasciae latae, semitendinosus, sartorius, gracilis, gastrocnemius, soleus and peroneus longus muscles (Figure 2).