Electrophysiologic findings in the proband and family members
| Patient | Age (years) | Lys236 del(yes/no) | Nerve conduction studies | ||||
|---|---|---|---|---|---|---|---|
| Nerve (ms) | Amp mV(M) (μV) (S) | DL (ms) | CV (m/s) | F wave lat (ms) | |||
| Normal values are shown in parentheses. Amp, amplitude; CV, conduction velocity; DL, distal latency; lat, latency; M, motor; ND, not done; NR, no response; S, sensory. | |||||||
| II.2 | 47 | Yes | Peroneal | 0.56 (⩾2.0) | 7.8 (⩽6.5) | 24 (⩾41) | ND (⩽56) |
| (proband) | Tibial | 1.1 (⩾4.0) | 7.1 (⩽5.8) | 25 (⩾41) | 106.7 (⩽56) | ||
| Median (M) | 9.5 (⩾4.0) | 5.2 (⩽4.4) | 29 (⩾49) | ND (⩽31) | |||
| Ulnar | 7.5 (⩾6.0) | 3.9 (⩽3.5) | 33 (⩾49) | 46.5 (⩽32) | |||
| Sural | NR (⩾7) | NR (⩾41) | |||||
| Median (s) | 7.4 (⩾20) | 41 (⩾50) | |||||
| I.1 | 71 | Yes | Peroneal | 0.5 (⩾2.0) | 7.6 (⩽6.5) | 30 (⩾41) | 74.1 (⩽56) |
| Median (M) | 8.2 (⩾4.0) | 5.7 (⩽4.4) | 39 (⩾49) | 35.6 (⩽31) | |||
| Sural | NR (⩾2.5) | NR (⩾41) | |||||
| Median (S) | 9.8 (⩾15) | 39 (⩾50) | |||||
| I.2 | 68 | No | Peroneal | 3.9 (⩾2.0) | 4.0 (⩽6.5) | 46 (⩾41) | 44.2 (⩽56) |
| Median (M) | 11.1 (⩾4.0) | 3.1 (⩽4.4) | 54 (⩾49) | 26.7 (⩽31) | |||
| Sural | 6.5 (⩾4.5) | 40 (⩾41) | |||||
| Median (S) | 20.7 (⩾15) | 59 (⩾50) | |||||
| II.3 | 43 | Yes | Peroneal | 2.8 (⩾2.0) | 5.8 (⩽6.5) | 28 (⩾41) | 67.6 (⩽56) |
| Median (M) | 9.2 (⩾4.0) | 4.3 (⩽4.4) | 47 (⩾49) | 31.4 (⩽31) | |||
| Sural | 8.9 (⩾6) | 34 (⩾41) | |||||
| Median (S) | 28.3 (⩾20) | 46 (⩾50) | |||||
| II.4 | 32 | No | Peroneal | 11.2 (⩾2.0) | 5.1 (⩽6.5) | 45 (⩾41) | 50.1 (⩽56) |
| Median (M) | 7.9 (⩾4.0) | 3.4 (⩽4.4) | 60 (⩾49) | 29.8 (⩽31) | |||
| Sural | 7..3 (⩾6) | 46 (⩾41) | |||||
| Median (S) | 28.8 (⩾20) | 59 (⩾50) | |||||
| III.1 | 15 | Yes | Peroneal | 7.8 (⩾2.0) | 6.4 (⩽6.5) | 43 (⩾41) | 50.9 (⩽56) |
| Median (M) | 8.3 (⩾4.0) | 3.5 (⩽4.4) | 56 (⩾49) | 26.7 (⩽31) | |||
| Sural | 21.5 (⩾6) | 46 (⩾41) | |||||
| Median (S) | 76.7 (⩾20) | 57 (⩾50) | |||||
| III.2 | 13 | No | Peroneal | 7.50 (⩾2.0) | 5.7 (⩽6.5) | 43 (⩾41) | 50.5 (⩽56) |
| Median (M) | 12.3 (⩾4.0) | 3.3 (⩽4.4) | 60 (⩾49) | 26.0 (⩽31) | |||
| Sural | 20.8 (⩾6) | 45 (⩾41) | |||||
| Median (S) | 46.5 (⩾20) | 57 (⩾50) | |||||