Table 2.
Additional Mutations Causing Neuropathy
| Motor Conduction Velocities |
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ulnar Nerve |
Median Nerve |
Peroneal Nerve |
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| Subject | Age (yr) | Side | DML (ms) | Vel (m/s) | Amp (mV) | F (ms) | DML (ms) | Vel (m/s) | Amp (mV) | F (ms) | DML (ms) | Vel (m/s) | Amp (mV) | F (ms) |
| IVS2-2A→G: disrupts exon 3 splice acceptor | 9 | R | 4.1 | 41.0 | 11.7 | 6.0 | 43.0 | 16.9 | 30.8 | 6.6 | 33 | 2.4 | 49.9 | |
| 136fs/144 stop | 11 | R | 3.0 | 49.0 | 0.2 | 5.1 | 35 | 2.0 | ||||||
| 136fs/144 stop | 14 | R | 3.0 | 37.0 | 0.1 | 5.0 | 48 | 7.5 | ||||||
| K150N | 9 | L | 2.1 | 43 | 3.7 | 2.3 | 38.0 | 4.1 | ||||||
| 144stop | 19 | L | 3.2 | 68 | 11.8 | 25.4 | 5.0 | 58.0 | 9.8 | 26.9 | 4.8 | 47 | 7.4 | 45.1 |
| Normal values | <3.5 | >50 | >6.0 | <33 | <4.5 | >48 | >4.0 | <32 | <6.0 | >41 | >2.0 | <56 | ||
| Sensory Conduction Velocities |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Ulnar Nerve |
Median Nerve |
Sural Nerve |
||||||||
| Subject | Age (yr) | Side | Vel (m/s) | Lat (ms) | Amp (μV) | Vel (m/s) | Lat (ms) | Amp (μV) | Vel (m/s) | Amp (μV) |
| IVS2-2A→G: disrupts exon 3 splice acceptor | 9 | R | 4.1 | 34.4 | 4.1 | 49.2 | ||||
| 144stop | 19 | L | 58.0 | 25.9 | 50.0 | 40.5 | 45 | 21 | ||
| Normal values | >54 | <2.9 | >20 | >50 | <3.2 | >20 | >35 | >6.0 | ||
Abnormal values are in boldface, italic type.
DML = distal motor latency; Vel = nerve conduction velocity; Amp = compound action motor potential; F = F-wave latency.