Table 3.
Overview of nerve conduction studies in 35 patients with hereditary neuropathy with onset in the first year of life
| Gene | Patient | Age | Median motor |
Ulnar motor |
Peroneal motor |
Tibial motor |
Median sensory |
Ulnar sensory |
Sural sensory |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Amp | CV | Amp | CV | Amp | CV | Amp | CV | Amp | CV | Amp | CV | Amp | CV | |||
| CMT1A dup | CMT-AII2_5.1 | – | – | 17.0 | – | 20.0 | – | – | – | – | – | 23.0 | – | – | – | – |
| PN-1745.1 | 20 m | – | – | – | – | 2.0 | 18.0 | 4.6 | 20.0 | – | – | – | – | – | – | |
| PN-491.1 | 4 y | – | – | – | – | 1.5 | 17.5 | – | – | – | – | – | – | – | – | |
| PN-908.3 | 19 y | 5.5 | 19.3 | – | – | 0.05 | 12.3 | – | – | – | – | – | – | A | A | |
| PMP22 exon 4 duplication | CMT-127.04 | 13 y | A | A | A | A | A | A | A | A | A | A | A | A | – | – |
| EGR2 | PN-27.1 | 6 y | 1.5 | 8.0 | – | – | 0.4 | 8.0 | – | – | A | A | – | A | A | |
| MFN2 | CMT-797.01 | – | ↓ | – | ↓ | – | ↓ | – | ↓ | – | A | A | A | A | A | A |
| CMT756.01 | 9 y | – | – | – | – | A | A | ↓ | – | – | – | – | – | N | – | |
| MPZ | CMT-65.07 | – | – | 11.1 | – | – | – | – | – | – | A | A | – | – | – | – |
| PN-1540.1 | 20 y | 1.4 | 2.8 | A | A | A | A | A | A | A | A | – | – | A | A | |
| PN-506.1 | 4 y | 0.6 | 7.0 | 1.2 | 17.0 | |||||||||||
| PN-752.1 | 38 y | 0.2 | 5.0 | 0.7 | 7.0 | – | 5.0 | 0.02 | 6.0 | – | – | – | – | – | – | |
| PN-966.4 | – | – | 11.0 | – | 6.0 | – | – | – | – | – | – | – | – | – | – | |
| NEFL | PN-1385.1 | 5 y | – | 29.0 | – | – | – | 24.0 | – | – | A | A | A | A | A | A |
| PMP22 | PN-750.3 | 2 y | A | A | – | – | A | A | A | A | A | A | – | – | A | A |
| FGD4 | CMT-190.01 | 11 y | 1.6 | 6.2 | 2.9 | 8.4 | A | A | A | A | A | A | A | A | A | A |
| CMT-230.01 | – | – | 5.0 | – | – | – | – | – | – | A | A | – | – | – | – | |
| GDAP1 | PN-860.3 | 3 y | 1.9 | 42.0 | 1.5 | 50.0 | A | A | – | – | A | A | – | – | A | A |
| MTMR2 | CMT-201.01 | 7 y | 0.6 | 13.0 | – | – | A | A | 0.6 | 13.0 | A | A | – | – | A | A |
| PRX | PN-1699.1 | 11 y | – | – | – | – | A | A | A | A | – | – | – | – | A | A |
| PN-2175.1 | 3 y | 1.9 | 6.9 | – | – | – | – | – | – | – | – | – | – | – | – | |
| PN-44.1 | 41 y | 1.1 | 3.0 | 0.5 | 3.0 | – | – | – | – | A | A | – | – | – | – | |
| PN-761.3 | 5 y | A | A | – | – | – | – | – | – | – | 46.3 | – | – | A | A | |
| SBF2 | CMT-194.01 | 8 y | – | – | – | 26.0 | – | – | – | – | – | – | – | – | – | – |
| CMT-220.01 | 9 y | – | 16.0 | – | 22.0 | – | – | – | – | – | – | – | – | – | – | |
| PN-1101.1 | 10 y | – | – | – | 21.0 | – | 14.0 | – | – | – | – | – | – | – | – | |
| SH3TC2 | CMT-191.01 | 10 y | 9.1 | 34.5 | 6.2 | 25.0 | 1.4 | 18.4 | – | – | – | – | – | – | 0.2 | 29.4 |
| CMT-192.01 | 10 y | 0.2 | 39.6 | 4.5 | 30.0 | 0.1 | 19.5 | – | – | – | – | – | – | 7.0 | 40.6 | |
| CMT-133.01 | – | – | 27.0 | – | 37.0 | – | 24.0 | – | – | A | A | – | – | – | – | |
| CMT-189.V.5 | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | |
| CMT-234.01 | – | – | 12.0 | – | – | – | – | – | – | – | – | – | – | – | – | |
| CMT-235.01 | – | – | 26.0 | – | – | – | 21.0 | – | – | – | 34.0 | – | – | A | A | |
| PN-1289.1 | 20 y | 3.9 | 31.6 | 4.3 | 37.9 | 0.1 | 26.5 | – | – | A | A | – | – | – | – | |
| PN-1321.1 | 33 y | 0.7 | 11.9 | 1.2 | 11.7 | 0.8 | 22.6 | 0.2 | 12.7 | – | 33.0 | – | – | – | – | |
| PN-754.3 | 2 y | 1.5 | 27.0 | – | – | 1.0 | 23.0 | – | – | 15.0 | 42.0 | – | – | – | – | |
A = absent response; Age = age at examination; Amp = amplitude (motor: in millivolt; sensory: in microvolt); CV = conduction velocity (in metre per second); N = normal; – = not available; ↓ = reduced.