Fig. 1.

Pedigree data of the family and clinical phenotype. A Pedigree data of the family; the proband is marked with an arrow. B Representative images of patient muscle biopsy are shown. H&E staining showed vacuoles inside muscle fibers (arrow), interstitial fat infiltration and connective tissue hyperplasia (inside rectangular box), and multiple internalized nuclei in muscle fibers of various size (star). MGT staining showed vacuoles inside muscle fibers (arrow). NADH and COX staining showing irregular internal architecture with patchy light-stained areas. C Magnetic resonance imaging (MRI). Axial T1-weighted and T2-weighted MRI scans of the thigh and calf