TABLE 4.
Gene Mutation of the ten patients with GNE myopathy
| No. | Zygosity | GNE mutations | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Allele 1 | Exon | Reported | Family member (with the same mutation) | Allele 2 | Exon | Reported | Family member (with the same mutation) | ||
| 1 | Het | c.577C>T (p.R193C) | 3 | Y | F | c.124C>T (p.R42W) | 2 | Y | M/S |
| 2 | Het | c.830G>A (p.R277Q) | 4 | Y | M | c.539C>T (p.A180V) | 3 | N | F |
| 3 | Het | c.830G>A (p.R277Q) | 4 | Y | F | c.2099G>A (p.G700E) | 12 | N | M |
| 4 | Het | c.620A>T (p.D207V) | 3 | Y | F | c.125G>A (p.R42Q) | 2 | Y | M/S |
| 5 | Hom | c.1489A>G (p.R497G) | 8 | N | M/F | – | – | – | – |
| 6 | Het | c.620A>T (p.D207V) | 3 | Y | Unknown | c.1616T>C (p.L539S) | 9 | Y | Unknown |
| 7 | Het | c.620A>T (p.D207V) | 3 | Y | Unknown | c.125G>A (p.R42Q) | 2 | Y | Unknown |
| 8 | Het | c.830G>A (p.R277Q) | 4 | Y | Unknown | c.1985C>T (p.A662V) | 11 | Y | Unknown |
| 9 | Hom | c.959A>G (p.Q320R) | 6 | N | M/F | – | – | – | – |
| 10 | Hom | c.854A>G (p.D285G) | 5 | N | M/F | – | – | – | – |
Abbreviations: Het, heterozygous; Hom, homozygous; Y, Yes; N, No; F, father; M, mother; M/F, both father and mother; S, son.