Table 1 Participant characteristics
Participant | Age | Mutation | RARS | GAIRS |
|---|---|---|---|---|
1 | 21 | c.880 C > T, p. Arg 309 Trp | 63.00 | 141.00 |
2 | 13 | c.806delG | 55.00 | 183.00 |
3 | 29 | R306C | 77.00 | 167.00 |
4 | 29 | R294X | 62.00 | 180.23 |
5 | 7 | R270X | 70.00 | 167.00 |
6 | 13 | c.806delG | 70.00 | 165.91 |
7 | 25 | mcp2 270arg stop | 63.00 | 182.22 |
8 | 16 | PCDH19 | 61.00 | 184.09 |
9 | 24 | P152R | 47.5 | 176.00 |
10 | 24 | P152R | 49.12 | 176.00 |
11 | 8 | R306C | 55.00 | 192.03 |
12 | 21 | R294X | 77.00 | 155.00 |
13 | 21 | R270X | 68.00 | 176.00 |
14 | 23 | c.806delG | 70.00 | 178.09 |
15 | 18 | R270X | 70.00 | 176.09 |
16 | 22 | R255 | 55.00 | 198.23 |
17 | 19 | c.880 C > T, p. Arg 309 Trp | 81.00 | 149.00 |
18 | 17 | c.880 C > T, p. Arg 309 Trp | 70.00 | 156.90 |