PMC6585112_01
Proband clinical features: winged scapulae and combination of thigh atrophy and calf pseudo-hypertrophy.
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F1
In lower limbs, weakness was prominent in quadriceps and glutei muscles which were significantly ipo-atrophic, together with the evidence of "apparently hypertrophic" (pseudo-hypertrophy) calf muscles (Figure 1).
Proband muscle MRI: involvement of upper limb girdle and paravertebral muscles (A,B), involvement of lower limb girdle and posterior compartment of the thigh (C-E, mostly the glutei) with relative sparing of the sartorius and gracilis, and involvement of the posterior compartment of the leg (F, mostly gastrocnemius medialis/soleus).
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F2
Muscle Magnetic Resonance Imaging (MRI) showed a prominent involvement of scapular girdle, paravertebral muscles, posterior compartment muscles of the thigh (with relative sparing of the sartorius and gracilis muscles) and of the leg (in particular gastrocnemius medialis and soleus) (Figure 2).