Biometric data, electrophysiological neuropathy types, CMT Neuropathy Score and gene mutations
| PMP22 duplication (n=20) | MPZ mutation (n=3) | EFL mutation (n=4) | EGR2 mutation (n=1) | ARHGEF10 mutation (n=1) | Controls (n=30) | |
|---|---|---|---|---|---|---|
| Age, mean (range) | 47.6 (21–78) | 39.7 (10–69) | 47.3 (27–68) | 49 | 67 | 42.7 (24–84) |
| Gender (M/F) | 10/10 | 2/1 | 2/2 | 0/1 | 1/0 | 19/11 |
| Height (cm), mean (SD) | 161.9 (10.0) | 152.7 (16.1) | 168.4 (5.1) | 160.0 (NA) | 173.5 (NA) | 162.8 (11.5) |
| Weight (kg), mean (SD) | 58.2 (11.1) | 55.6 (17.5) | 63.5 (22.2) | 56.0 (NA) | 76.0 (NA) | 58.4 (10.8) |
| Body mass index, mean(SD) | 22.1 (3.3) | 23.4 (2.5) | 22.3 (7.6) | 23.8 (NA) | 25.2 (NA) | 21.9 (2.2) |
| Demyelinating type/axonal type | 20/0 | 2/1 | 2/2 | 1/0 | 0/1 | NA |
| CMT Neuropathy Score, mean (range) | 14.0 (7–28) | 12.0 (10–14) | 15.5 (9–25) | 7.0 | 7.0 | NA |
| Gene mutations | PMP22 duplication | CMT1B: Tyr68Cys (n=2); CMT2J: Thr124Met | CMT1F: Pro8Leu (n=2) CMT2E: Glu396Lys; Tyr389Cys | Thr387Asn | Thr109Ile | NA |
CMT, Charcot-Marie-Tooth disease; F, female; M, male; NA, not applicable.