Fig. 1

Clinical information of patients with CGG expansion in NOTCH2NLC. a Family trees of seven families. White circles and squares show unaffected indivisuals. Black circles and squares show patients. * shows probands. b Repeat primed PCR and fragment analysis for patient 1 and control. c Southern blotting analysis for CGG expansion in NOTCH2NLC. The arrows and arrowheads indicate the expanded alleles in patients 2 and 3, respectively. M, DNA marker. d Imaging of muscle CT from patient 2 shows asymmetric muscle atrophy. Right gluteus maximus, left vastus lateralis, adductor magnus, and rectus femoris are severely affected. e DWI of patient 1. f FLAIR image of patient 1. g DWI of patient 5. h FLAIR image of patient 5. i Marked fiber size variation, moderate endomysial fibrosis, and fibers with internal nuclei are seen on H&E. j Rimmed vacuole is present in a muscle fiber on mGT. k Some myofibers express neonatal myosin heavy chain. i–k Scale bars denote 50 µm