Fig 1: Pedigree, muscle MRI, and pathology. (A) Pedigree chart of the PLIN4‐related family. All the asterisked individuals had available blood DNA. (B–E) Muscle imaging showed severe fatty replacement and mild muscular edema, with the thigh muscles more severally affected than the calves, and rectus femoris and gracilis relative spared. H&E, mGT, and ORO staining of muscles biopsies of Patient S (F–H) and F‐III3 (N–P), NADH‐TR (I), SDH (G), NSE (K), MHC‐I (L), and MAC (M) staining and immunofluorescence of p62/ubiquitin (Q) from Patient S showed amorphous basophilic materials distributed beneath the sarcolemma (arrowhead) and RVs (arrow), with focal areas devoid of NADH‐TR and SDH and increased MHC‐I and MAC expression. ORO staining was normal. Immunohistochemistry showed p62/ubiquitin‐positive protein deposition in both the subsarcolemmal region and in the cytoplasm. Scale bars = 20 μm (F, G, H, and O), 50 μm (I, J, K, N, P, and Q), 100 μm (L and M).
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