From: Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan
Age | Pathogenic variants | M | P | First symptoms | Feeding | |
---|---|---|---|---|---|---|
23 | c.620A > T (p.D207V) | c.1807G > C (p.V603L) | 1 | 1 | Frequent stumbling Difficulty in walking | B |
26 | c.1355 T > C (p.V452A) | c.1807G > C (p.V603L) | 1 | 2 | Difficulty in walking Unable to run | B |
28 | c.1355 T > C (p.V452A) | c.1998 T > A/G (p.N666K) | 1 | 1 | Finger muscle weakness | F |
30 | c.395G > A (p.R132H) | c.1807G > C (p.V603L) | NA | 1 | Frequent stumbling Difficulty in walking Unable to run | M |
35 | c.620A > T (p.D207V) | c.1807G > C (p.V603L) | NA | 2 | Frequent stumbling Difficulty in walking Difficulty in bending fingers | M |
36 | c.620A > T (p.D207V) | c.1807G > C (p.V603L) | 3 | 1 | Difficulty in walking Unable to run | B |