Table 2.
Electrophysiological data of patients carrying PNKP mutations
| Patient | Nerve | Motor NCS | Sensory NCS | ||||
|---|---|---|---|---|---|---|---|
| DML (ms) right/left | MNCV (m/s) right/left | F-wave latencies (ms) right/left | Distal CMAP (mV) right/left | SNCV (m/s) right/left | SNAP (uV) right/left | ||
| CMT1003 | Median | −/− | −/− | −/− | −/− | −/− | −/− |
| Ulnar | −/− | −/− | −/− | −/− | −/− | −/− | |
| Tibial | −/− | −/− | −/− | −/− | |||
| Peroneal | −/− | −/− | −/− | −/− | |||
| CMT1190 | Median | 4.1/4.4 | 44.6/38.0 | 28.3/31.2 | 11.9/4.7 | −/− | −/− |
| Ulnar | 3.4/4.2 | 39.5/40.2 | 22.0/21.9 | 4.0/3.8 | −/− | −/− | |
| Tibial | −/− | −/− | −/− | −/− | |||
| Peroneal | 0.0/− | −/− | −/− | 0.0/− | |||
| B4.2 | Median | 9.8/− | 17.8/− | −/21.0 | 0.0/− | −/− | −/− |
| Ulnar | 7.7/− | −/− | −/20.8 | 0.0/− | −/− | −/− | |
| Tibial | −/− | −/− | −/− | −/− | |||
| Peroneal | −/− | −/− | −/− | −/− | |||
| A6.2 | Median | 6.1/3.9 | 31.5/41. 5 | 54.6/30.9 | 0.1/7.7 | −/− | −/− |
| Ulnar | 4.2/4.1 | 35.0/39.3 | 53.5/50.4 | 0.2/0.8 | −/− | −/− | |
| Tibial | −/− | −/− | −/− | −/− | |||
| Peroneal | −/− | −/− | −/− | −/− | |||