Table 4

Neurophysiological findings

PatientSuralPeronealMedian/ulnarMedian/ulnarEMG
SNAP (uV)SNCV (m/s)dCMAP (mV)MNCV (m/s)SNAP (uV)SNCV (m/s)dCMAP (mV)MNCV (m/s)
Fam A SIGMAR1 II,1NRNANRNA2.5 (Uln)480.4 (Uln)23Neurogenic
II,22841.24.333.152 (Uln)63.81.6 (Uln)65Neurogenic
Sporadic
SIGMAR1
Pt 123450.24420 (Uln)531.0 (Uln)46Neurogenic
Fam B ARHGEF28 II,1NDNDNRNA0.51 (Med)74.40.3 (Med)42.1Neurogenic
II,2NDNDNRNA0.89 (Med)59.60.1 (Med)45.4Neurogenic
Sporadic
ARHGEF28
Pt 2NDND0.436.612 (Uln)443.5 (Uln)39.6Neurogenic
Fam C
VRK1
II,144477.239.427 (Uln)47.114.6 (Uln)54.3Neurogenic
II,2NDND7.741.2NDND13.3 (Uln)52.7Neurogenic
Fam D PNKP II,1NRNA3.340.3NR (Med)NA12.4 (Med)53.3Neurogenic
II,2NRNA1.633.24.4(Med)40.315.8 (Med)52.7Neurogenic
II,32.341.39.346.922 (Med)53.78.9 (Med)57Neurogenic
Fam E KBTBD13 II,27.248.30.940.531.4 (Med)61.18.5 (Uln)55.6Neurogenic
II,32.7400.44120.8 (Uln)53.85.1 (Uln)57.8Neurogenic
Fam F
GNE
II,12.744.11.245.245 (Med)5012.6 (Uln)58.9Neurogenic and myopathic
II,26.4500.446.326.9 (Med)65.812.2 (Uln)59Neurogenic and myopathic
Fam G AGRN III,1NRNANRNANR (Uln)NA8.0 (Uln)57Neurogenic
III,2NRNANRNANR (Uln)NA3.5 (UIn)56Neurogenic
  • EMG, electromyography; Fam, family; MNCV, motor nerve conduction velocity; NA, not applicable; ND, not determined; NR, no response; Pt, patient; SNAP, sensory action potential; SNCV, sensory nerve conduction velocity; dCMAP, distal compound muscular action potential.