Table 1

Clinical characteristics and nerve conduction studies

No(sex)/AgeGenotypeIndep. walking (months)Onset (years)Sensory lossMotor
Cranial nervesCMTNSNerve conduction studies
1(M) 45p.R1109X/ p.R1109X20Delayed walkingAll+/++Hearing loss2331 m/s (24 y)7/00.6/0
2(F) 12p.R1109X/ p.R1109X36Delayed walkingAll+/+++18*17 m/s (3y)NP/NPNP
3(F) 20p.R1109X/p.C737_P738delinsX18Delayed walkingP,V+/++1923 m/s (12y)10.6/0.51.9/0
4(M) 58p.R529Q/ p.R529Q?Unstable 10 yP,V+/+++Hearing loss2427 m/s (39y)2,2/01/0
5(F) 33p.R1109X/ p.R1109X22Delayed walkingAll+/+++2319 m/s (20y)4/00/0
6(M) 56p.R1109X/ p.R1109X18Delayed walkingAll+/++Hearing loss Trigeminal neuralgia2025,8 m/s (53y)4,3/00/0
7(F) 20p.R1109X/ p.R1109X30Delayed walkingAll+/+1633 m/s (10y)10/0.10.8/0
8(M) 37p.H1102LfsX14/ p.H1102LfsX14/?Unstable 12 yAll+/++1633 m/s (30y)5,9/01.5/0
9(F) 27p.R1109X/p.C737_P738delinsX14Pes cavus 9 yP,V+/++1734 m/s (27y)4.2/00/0
10(F) 24p.R1109X/p.C737_P738delinsX15Falls 2yAll++/+++2336 m/s (24y)4.1/00/0
  • *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.