Table 2 Pathological findings of patients with CGG expansion in NOTCH2NLC
Patient ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 |
|---|---|---|---|---|---|---|---|
Sex | F | F | M | M | F | M | M |
Age at muscle biopsy | 25 years | 45 years | 27 years | 46 years | 72 years | 70 years | 26 years |
Fiber size variation | Moderate | Marked | Marked | Mild | Moderate | Moderate | Moderate |
Regenerating fibers | 2% | 2% | 16% | 1% | - | 0.5% | 5% |
Small angular fibers | 4% | 10.5% | 5% | 1% | 8.5% | 8% | 10% |
Endomysial fibrosis | ± | ± | ++ | ± | - | ± | ± |
Fibers with internal nuclei | 2% | 5.5% | 4.5% | 19% | 1% | 17.5% | 3% |
Fibers with rimmed vacuoles | 1.5% | 3.5% | 4% | 0.5% | 0.5% | 2% | 2.5% |
Type 2C fibers | 1.5% | 1% | 2% | 1.5% | 1.5% | 2% | 3.5% |
Intra-myonuclear p62 positive | 3.5% | 2.5% | 7% | 2.5% | 1% | 3% | 2% |
Intra-myonuclear ubiquitin positive | 2% | 0.5% | 2.5% | 1.5% | 2.5% | 0.5% | 2.5% |
Intra-myonuclear SUMO1 positive | 2.5% | 0.5% | 2.5% | 2.5% | 2.5% | 1% | 2% |