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. 2020 Nov 25;8:204. doi: 10.1186/s40478-020-01084-4

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%

M male, F female