Table 1

List of patients with 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

The age range at biopsy, gender and mutation details are indicated.

Fischer et al.

Fischer et al. BMC Neurology 2013 13:24   doi:10.1186/1471-2377-13-24

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