Hit rates for rare Charcot–Marie–Tooth genes
| Gene | Mutations found (n) | Patients screened (n) | % Hit rate of No screened |
| LITAF | 4 | 185 | 2.2 |
| SH3TC2† | 9 | 329 | 2.7 |
| NEFL | 3 | 183 | 1.6 |
| EGR2 | 4 | 135 | 3 |
| TRPV4* | 5 | 353 | 1.4 |
| HSPB1* | 9 | 411 | 2.2 |
| HSPB8* | 1 | 406 | 0.2 |
| MTMR2‡ | 2 | 9 | 22.2 |
All patients in this cohort were negative for PMP22 duplication or MFN2 mutations depending on whether they had CMT1 or CMT2.
↵* Patients with CMT2 and distal hereditary motor neuropathy screened.
↵† An additional 11 patients had heterozygous mutations but only had the hot spot (exon 11) screened.
↵‡ Only nine selected patients screened hence the higher hit rate.
CMT, Charcot–Marie–Tooth disease; CMT1, demyelinating CMT; CMT2, axonal CMT; EGR2, early growth response 2; HSPB1, heat shock 27 kDa protein 1; HSPB1, heat shock protein 8; LITAF, lipopolysaccharide induced TNF factor; MTMR2, myotubularin related protein 2; NEFL, neurofilament, light polypeptide; PMP22, peripheral myelin protein 22; SH3TC2, SH3 domain and tetratricopeptide repeats 2; TRPV4, transient receptor potential cation channel, subfamily V, member 4.