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Table 6 Background of participants who experienced disease onset within a year after delivery

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

  1. Age Maternal age at pregnancy, M Months after delivery to disease onset, P Parity, NA data not available, B Breast feeding, F Formula feeding, M Mixed feeding