Table 1 List of patients with GNE myopathy
From: Cell stress molecules in the skeletal muscle of GNE myopathy
Patient | Age | Gender | Mutation | |
|---|---|---|---|---|
1 | >30 | F | D176V | A630T |
2 | ≤30 | M | V572L | V572L |
3 | >30 | F | V572L | V572L |
4 | ≤30 | M | D176V | V331A |
5 | ≤30 | F | V572L | V572L |
6 | >30 | M | V572L | c.769 + 4A > G (exon4 skipping) |
7 | ≤30 | M | V572L | V572L |
8 | ≤30 | F | V572L | V572L |
9 | >30 | F | D176V | V572L |
10 | >40 | M | D176V | D176V |