Table 4 Electrophysiological studies in the patient (III-1) with a novel compound mutations in the PLEKHG5 gene
Items | Determined values | Normal value | |||
|---|---|---|---|---|---|
Age at exam (years) | 14 | 15 | 16 | 19 | |
Side | Right | Right | Right | Right | |
Median nerve | |||||
TL (ms) | 6.1 | 5.4 | 5.5 | 7.0 | <3.9 |
CMAP (mV) | 8.2 | 9.5 | 9.6 | 6.4 | >6.0 |
MNCV(m/S) | 25.3 | 24.7 | 25.6 | 29.3 | >50.5 |
Ulnar nerve | |||||
TL (ms) | 4.9 | 4.9 | 4.9 | 5.7 | <3.0 |
CMAP (mV) | 9.7 | 10.2 | 10.0 | 10.0 | >8.0 |
MNCV(m/S) | 25.0 | 22.4 | 20.4 | 25.0 | >51.1 |
Peroneal nerve | |||||
TL (ms) | A | A | A | A | <5.3 |
CMAP (mV) | A | A | A | A | >1.6 |
MNCV(m/S) | A | A | A | A | >41.2 |
Tibial nerve | |||||
TL (ms) | 7.2 | 6.0 | 7.4 | A | <5.4 |
CMAP (mV) | 0.6 | 0.3 | 0.2 | A | >6.0 |
MNCV(m/S) | 19.2 | 15.8 | 13.4 | A | >41.1 |
Median sensory nerve | |||||
SNAP (μV) | 6.5 | 4.8 | 7.8 | 8.0 | >8.8 |
SNCV (m/s) | 27.0 | 25.9 | 27.3 | 25.6 | >39.3 |
Ulnar sensory nerve | |||||
SNAP (μV) | 7.4 | 6.9 | 5.0 | 4.5 | >7.9 |
SNCV (m/s) | 23.4 | 21.9 | 22.3 | 23.7 | >37.5 |
Sural nerve | |||||
SNAP (μV) | A | A | A | A | >6.0 |
SNCV (m/s) | A | A | A | A | >32.1 |