Fig. 2
From: Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Expression and localization of FXR1P isoforms in family 1. a Representative anti-FXR1P immunoblots of soluble (SF) and insoluble (IF) fractions of protein extracts from control and V-4 myoblasts and myotubes, n = 5. An antibody against all FXR1P isoforms (Proteintech) and another one specific for iso-e/f (#27-15) were used in left and right panels, respectively. Numbered brackets on left panel designate P70-80 FXR1P isoforms (1), and P82,84 isoforms (2). Asterisks indicate a non-specific band. α-actinin and α-tubulin were used as loading controls. b Anti-FXR1P immunofluorescence showing subcellular distribution of FXR1P in control and V-4 myoblasts and myotubes, n = 5. Scale bar 15 µm. Arrows in V-4 myoblasts and myotubes point to ring-shaped granular accumulations of mutant P82,84 isoforms. The granule magnified in V-4 myotubes is indicated with an arrowhead (scale bar 2 µm). Desmin and MHC were used as myogenic markers with MHC being an indicator of myotube differentiation. Nuclei are stained with DAPI
