Clinical characteristics and nerve conduction studies
| No(sex)/Age | Genotype | Indep. walking (months) | Onset (years) | Sensory loss | Motor UL/LL | Cranial nerves | CMTNS | Nerve conduction studies | ||
|---|---|---|---|---|---|---|---|---|---|---|
| MMNCV (age) | CMAP UL/LL | SNAP UL/LL | ||||||||
| 1(M) 45 | p.R1109X/ p.R1109X | 20 | Delayed walking | All | +/++ | Hearing loss | 23 | 31 m/s (24 y) | 7/0 | 0.6/0 |
| 2(F) 12 | p.R1109X/ p.R1109X | 36 | Delayed walking | All | +/+++ | – | 18* | 17 m/s (3y) | NP/NP | NP |
| 3(F) 20 | p.R1109X/p.C737_P738delinsX | 18 | Delayed walking | P,V | +/++ | – | 19 | 23 m/s (12y) | 10.6/0.5 | 1.9/0 |
| 4(M) 58 | p.R529Q/ p.R529Q | ? | Unstable 10 y | P,V | +/+++ | Hearing loss | 24 | 27 m/s (39y) | 2,2/0 | 1/0 |
| 5(F) 33 | p.R1109X/ p.R1109X | 22 | Delayed walking | All | +/+++ | – | 23 | 19 m/s (20y) | 4/0 | 0/0 |
| 6(M) 56 | p.R1109X/ p.R1109X | 18 | Delayed walking | All | +/++ | Hearing loss Trigeminal neuralgia | 20 | 25,8 m/s (53y) | 4,3/0 | 0/0 |
| 7(F) 20 | p.R1109X/ p.R1109X | 30 | Delayed walking | All | +/+ | – | 16 | 33 m/s (10y) | 10/0.1 | 0.8/0 |
| 8(M) 37 | p.H1102LfsX14/ p.H1102LfsX14/ | ? | Unstable 12 y | All | +/++ | – | 16 | 33 m/s (30y) | 5,9/0 | 1.5/0 |
| 9(F) 27 | p.R1109X/p.C737_P738delinsX | 14 | Pes cavus 9 y | P,V | +/++ | – | 17 | 34 m/s (27y) | 4.2/0 | 0/0 |
| 10(F) 24 | p.R1109X/p.C737_P738delinsX | 15 | Falls 2y | All | ++/+++ | – | 23 | 36 m/s (24y) | 4.1/0 | 0/0 |
*Score for patient 2 are CMTES as the nerve conduction studies were incomplete. Patients 1 and 5, and 9 and 10 belong to the same family.
CMAP, compound muscle action potential, data of the UL, median nerve (normal values >13.8 mV); CMTNS, CMT Neuropathy score; LL, lower limb; LL, peroneal nerve (normal values >7.4 mV); LL, sural nerve (normal values >18 μV); MMNCV, median m otor nerve conduction velocity (normal values >51.6 m/s); NP, not performed; P, pinprick; SNAP, sensory nerve action potential, data of the UL: median nerve (normal values >16.5 μV); UL, upper limb; V, vibratory.