Table 2.
Electrophysiological testing results of CMT cases diagnosed by WES in Neurology Laboratory, University of Cretea
| Nerve stimulated | Recording site | Stimulation site | Patient #1 | Patient #2 | Patient #3 | |||
|---|---|---|---|---|---|---|---|---|
| Distal latency (ms) | Conduction velocity (m/s) | Distal latency (ms) | Conduction velocity (m/s) | Distal latency (ms) | Conduction velocity (m/s) | |||
| Tibial (m) L | AH | Ankle | NR | NR | NR | NR | 8.0 | — |
| Popliteal fossa | — | 33 | ||||||
| Tibial (m) R | AH | Ankle | NR | NR | NR | NR | 8.8 | — |
| Popliteal fossa | — | 36 | ||||||
| Median (m) L | APB | Wrist | 6.1 | — | 4.8 | — | 4.7 | — |
| Antecubital fossa | — | 25.0 | — | 31.8 | — | 37 | ||
| Ulnar (m) L | ADM | Wrist | 4.4 | — | 3.5 | — | ||
| Below elbow | — | 20.2 | — | 26.4 | 3.7 | — | ||
| Above elbow | — | 22.0 | — | 25.0 | — | 37 | ||
| Median (m) R | APB | Wrist | 8.3 | — | 4.4 | — | 4.6 | — |
| Antecubital fossa | — | 17.4 | — | 30.7 | — | 38 | ||
| Ulnar (m) R | ADM | Wrist | 6.0 | — | 2.5 | — | 5.0 | — |
| Below elbow | — | 21.8 | — | 25.0 | — | 33 | ||
| Above elbow | — | NR | — | 23.8 | — | NR | ||
| Median (s) L | Wrist | Index finger | NR | NR | NR | 41.2 | NR | NR |
| Ulnar (s) L | Wrist | Little finger | NR | NR | NR | 38.0 | NR | NR |
Abnormal values are shown in bold.
Abbreviations: ADM, abductor digiti minimi; AH, abductor hallucis; APB, abductor pollicis brevis; CMT, Charcot–Marie–Tooth; NR, not recorded; WES, whole exome sequencing.
a
More extended neurophysiological testing results are shown in the supplementary material.