Table 1 Electrophysiological features of patients with mutations in HADHB gene
From: A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
Patients | II-1 | II-2 | Â | Normal value |
|---|---|---|---|---|
Age at exam (years) | 37 | 32 | 34 | Â |
Median nerve | Â | Â | Â | Â |
TL (ms) | 4.2 | 4.1 | 4.1 | < 3.9 |
CMAP (mV) | 7.2 | 2.2 | 3.6 | > 6.0 |
MNCV (m/s) | 44.9 | 40.6 | 41.9 | > 50.5 |
F-wave (ms) | 36.8 | 55.0 | 38.8 | < 28.0 |
Ulnar nerve | Â | Â | Â | Â |
TL (ms) | 3.5 | 4.0 | 4.0 | < 3.0 |
CMAP (mV) | 5.7 | 5.2 | 5.8 | > 8.0 |
MNCV (m/s) | 40.4 | 43.1 | 43.9 | > 51.1 |
F-wave (ms) | 33.2 | 36.8 | 34.4 | < 29.0 |
Peroneal nerve | Â | Â | Â | Â |
TL (ms) | A | A | A | < 5.3 |
CMAP (mV) | A | A | A | > 1.6 |
MNCV (m/s) | A | A | A | > 41.2 |
F-wave (ms) | A | A | A | < 49.0 |
Tibial nerve | Â | Â | Â | Â |
TL (ms) | 3.9 | A | A | < 5.4 |
CMAP (mV) | 0.2 | A | A | > 6.0 |
MNCV (m/s) | 34.0 | A | A | > 41.1 |
F-wave (ms) | 63.0 | A | A | < 52.1 |
Median sensory nerve | Â | Â | Â | Â |
SNAP (ÎĽV) | A | A | A | > 8.8 |
SNCV (m/s) | A | A | A | > 39.3 |
Ulnar sensory nerve | Â | Â | Â | Â |
SNAP (ÎĽV) | A | A | A | > 7.9 |
SNCV (m/s) | A | A | A | > 37.5 |
Sural nerve | Â | Â | Â | Â |
SNAP (ÎĽV) | A | A | A | > 6.0 |
SNCV (m/s) | A | A | A | > 32.1 |