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Figure Caption
Figure 9 KLHL40-NM patients exhibit increased SAR1A protein and vesicle accumulation with ECM defects in skeletal muscle. (A) Immunofluorescence in control and a KLHL40 patient muscle biopsy showing increased SAR1A protein in the patient muscle (white arrows). Moreover, collagen accumulation is seen in the patient muscle (white arrowhead). (B) Transmission electron microscopy of KLHL40 patient muscle showed vesicle accumulation (arrows) and disorganized and damaged extracellular matrix between myofibers (arrows).
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