Table 1
Electrophysiological features of the patients with the M116R mutation
| Patient | Age at onset (years) | Age at examination (years) | Median nerve | Peroneal nerve | Median nerve | Sural nerve | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| MNCV | CMAP | MNCV | CMAP | SNCV | SNAP | SNCV | SNAP | |||
| CMAP, compound muscle action potential amplitude (mV); MNCV, motor nerve conduction velocity (m/s); ND, not done; NE, not elicitable; SNAP, sensory nerve action potential (μV); SNCV, sensory nerve conduction velocity (m/s). | ||||||||||
| Family 1 | ||||||||||
| II:2 | 1 | 4 | 33 | 1.9 | NE | NE | NE | NE | NE | NE |
| 12 | 29 | 1.3 | NE | NE | NE | NE | NE | NE | ||
| 14 | NE | NE | NE | NE | NE | NE | NE | NE | ||
| Family 2 | ||||||||||
| II:2 | 7 | 13 | 50 | 2.4 | NE | NE | 46.4 | 8 | ND | ND |
| 14 | 51.2 | 2 | NE | NE | 46.1 | 3 | 47.2 | 3 | ||
| 16 | 55 | 1 | NE | NE | 47.4 | 1 | NE | NE | ||
| Family 2 | ||||||||||
| II:3 | 7 | 7 | 51 | 3.6 | NE | NE | 50.4 | 5 | 42.9 | 4 |
| 9 | 50.3 | 3 | NE | NE | 54.9 | 4 | 47.6 | 2 | ||
| Family 3 | ||||||||||
| II:1 | 2 | 9 | 29.4 | < 0.1 | ND | ND | 40.5 | 3 | ND | ND |
| 20 | NE | NE | NE | NE | 38 | 2 | NE | NE | ||
