Genetic diagnoses in patients with Charcot–Marie–Tooth disease not attending an inherited neuropathy clinic
| Genetic mutation | n | % |
| PMP22 duplication | 247 | 20.9 |
| PMP22 point mutation | 5 | 0.4 |
| GJB1 | 101 | 8.5 |
| MFN2 | 48 | 4.1 |
| MPZ | 18 | 1.5 |
| BSCL2 | 1 | 0.1 |
| GDAP1 | 10 | 0.8 |
| HSPB1 | 1 | 0.1 |
| SH3TC2 | 4 | 0.3 |
| LITAF | 2 | 0.2 |
| MTMR2 | 1 | 0.1 |
| NEFL | 2 | 0.2 |
| TRPV4 | 1 | 0.1 |
| EGR2 | 4 | 0.4 |
BSCL2, Berardinelli–Seip congenital lipodystrophy 2; EGR2, early growth response 2; GAN1, gigaxonin; GDAP1, ganglioside induced differentiation associated protein 1; GJB1, gap junction β1; HSPB1, heat shock 27 kDa protein 1; LITAF, lipopolysaccharide induced TNF factor; MFN2, mitofusin 2; MPZ, myelin protein zero; 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.