Comparative analysis between our cases and LRP12-OPDM
| Our LRP12 cases | LRP12-OPDM | Our cases versus OPDM | |
| (n=44) | (n=76) | (n=44 vs 76) | |
| CGG repeat number; mean (range) | 76.41±17.97 (50–152) | 162.33±76.92 (76–630) | p<0.0001**** |
| Sex; male/female | 25/19 | 48/28 | p=0.5620 |
| Onset age; mean (range, year) | 39.08±10.87 (22–69) (n=39) | 40.73±10.21 (17–62) (n=75) | p=0.3321 |
| Examination age; mean (range, year) | 53.78±12.90 (33–77) (n=37) | 61.25±11.67 (48–82) (n=8) | p=0.1337 |
| Serum CK; mean, (range, IU/L) | 715.9±585.2 (127–3000) (n=34) | 487.82±330.12 (30–1674) (n=71) | p=0.0729 |
| Symptoms (rate; %) | |||
| Ptosis | 1 (2.7) (n=37) | 69 (92.0) (n=75) | p<0.0001**** |
| Ophthalmoplegia | 0 (n=36) | 60 (80.0) (n=75) | p<0.0001**** |
| Facial muscle weakness | 4 (11.1) (n=36) | 73 (97.3) (n=75) | p<0.0001**** |
| Bulbar muscle weakness | 5 (14.7) (n=34) | 68 (90.7) (n=75) | p<0.0001**** |
| Limb weakness | 37 (100) (n=37) | 74 (97.4) (n=76) | p>0.9999 |
| Distal muscle atrophy | 36 (100) (n=36) | 6 (100) (n=6) | p>0.9999 |
| Sensory disturbance | 7 (18.9) (n=37) | 1 (100) (n=1) | p=0.2105 |
| Pyramidal sign | 0 (n=37) | n.a | p>0.9999 |
| Cognitive disorder | 0 (n=29) | 4 (6.3) (n=64) | p=0.3058 |
| Loss of ambulation | 2 (5.7) (n=35) | 16 (24.2) (n=66) | p=0.0273* |
| Cardiac disorder | 5 (15.6) (n=32) | 9 (13.6) (n=66) | p=0.7675 |
| Respiratory failure | 0 (n=33) | 7 (10.6) (n=66) | p=0.0917 |
| Rimmed vacuole (rate; %) | 2 (18.2) (n=11) | 49 (100) (n=49) | p<0.0001**** |
| p62 in muscle (rate; %) | 4 (50.0) (n=8) | 26 (100) (n=26) | p=0.0015** |
| Brain MRI abnormally (rate; %) | 3 (25.0) (n=12) | 0 (n=5) | p=0.5147 |
*, p <0.05; **, p <0.01; ***, p <0.001; ****, p <0.0001.
CK, creatine kinase; MRI, magnetic resonance imaging; n.a, not available; OPDM, oculopharyngodistal myopathy .