Table 1 Clinical and electrophysical details in this family
| Â | Patient 1 | Patient 2 |
|---|---|---|
Muscle strengths | ||
 Eyes closing | 5,5 | 5,5 |
 Shoulder abduction | 4,4 | 5,5 |
 Elbow flexion | 4,4 | 5,5 |
 Wrist extension | 2,2 | 5,5 |
 Hip flexion | 2,2 | 5,5 |
 Knee extension | 2,2 | 5,5 |
 Foot dorsiflexion | 0,0 | 5-,5- |
NCS (Right Motor nerve) | ||
 Median CV(> 50.0 m/s) | 50.1 | 55.4 |
 Median Amp(> 4.8mv) | 1.75 | 5.3 |
 Ulnar CV(> 51.0 m/s) | 59.8 | 54.7 |
 Ulnar Amp (> 5.5mv) | 0.6 | 6.9 |
 Peroneal CV(> 39.8 m/s) | NP | NP |
 Peroneal Amp (> 2.3 mv) | NP | NP |
NCS (Right Sensory nerve) | ||
 Median CV(> 50.8 m/s) | NP | 55.7 |
 Median SNAP (> 8 μV) | NP | 9.1 |
 Sural CV(> 41.9 m/s) | NP | 50.5 |
 Sural SNAP(> 7μv) | NP | 11.6 |
EMG | ||
 Spontaneous potential |  +  | - |
 MUP of large amplitude and increased duration | Extensive | Patrial |
Laboratory examination | ||
 CK (50–310 U/L) | 56 | NA |
 LDH (120-250U/L) | 119 | NA |
Clinical features | ||
 Hearing loss | - | - |
 Pes cavus | - | - |
 Club foot | - |  +  |
 Vocal cord paralysis | - | - |
 Scoliosis | - | - |