Fig. 3

The expression of POPDC1 and POPDC2 is greatly reduced at the sarcolemma of skeletal muscle fibers expressing POPDC1 p.Q153X. a and b Transverse sections of skeletal muscle biopsies from a patient (PT) carrying the POPDC1 p.Q153X variant in homozygosity and a matched control (CT) were stained for a POPDC1 or b POPDC2, along with SGCA as a sarcolemma marker. Scale bar: 100 μm. c and d The expression levels of c POPDC1 and d POPDC2 in the sarcolemma normalized to SGCA, were quantified in individual fibers. The number of sections (sec), images (img) and fibers (fib) analyzed per group are as follows: CT: POPDC1—1 s, 4 img, 238 fib; POPDC2—1 s, 4 img, 163 fib. PT: POPDC1—1 s, 3 img, 65 fib; POPDC2—1 s, 3 img, 70 fib. The median POPDC/SGCA-level in each control biopsy was set to 1. Dashed lines indicate the normalized median and interquartile range. Data were analyzed using Mann–Whitney test; ****p < 0.0001