Table 1. Motor and sensory nerve conduction findings in patients with AD-CMT neuropathy due to heterozygous c.1117C>T mutation in the FBLN5 gene.
| Patient | I/1 | II/2 (proband) | III/1 |
|---|---|---|---|
| Motor nerve conduction | |||
| Median nerve | |||
| DML (ms) | 6.15 | 7.83 | 5 |
| MNCV (m/s) | 28.8 | 23.1 | 31.5 |
| CMAP amplitude (mV) | 7.2 | 3.1 | 7.6 |
| Ulnar nerve | |||
| DML (ms) | 4.15 | 6.21 | NE |
| MNCV (m/s) | 24.4 | – | |
| CMAP amplitude (mV) | 4.8 | 1.07 | |
| Peroneal nerve | |||
| DML (ms) | 6.84 | – | 5.83 |
| MNCV (m/s) | 22.3 | – | 24.2 |
| CMAP amplitude (mV) | 2.6 | – | 5.5 |
| Tibial nerve | |||
| DML (ms) | 7.33 | – | NE |
| MNCV (m/s) | 18.4 | – | |
| CMAP amplitude (mV) | 0.99 | – | |
| Sensory nerve action potential amplitude (µV) | |||
| Median nerve | 8.1 | – | 9.6 |
| Ulnar nerve | 3.3 | – | NE |
| Superficial peroneal nerve | – | – | 14 |
| Sural nerve | – | – | NE |
| F wave conduction velocities (m/s) | NE | – | 32.4 |
| H reflex latency (ms) | NE | – | 44 |
DML = distal motor latency; MNCV = motor nerve conduction velocity; CMAP = compound muscle action potential; NE = not examined; – = no response.