Molecular diagnoses in patients with Charcot–Marie–Tooth disease attending an inherited neuropathy clinic
| Genetic mutation | n | % |
| PMP22 duplication | 168 | 39.5 |
| PMP22 point mutation | 6 | 1.4 |
| GJB1 | 46 | 10.8 |
| MFN2 | 12 | 2.8 |
| MPZ | 13 | 3.1 |
| BSCL2 | 1 | 0.2 |
| GDAP1 | 2 | 0.5 |
| HSPB1 | 2 | 0.5 |
| SH3TC2 | 5 | 1.2 |
| LITAF | 4 | 0.9 |
| MTMR2 | 1 | 0.2 |
| NEFL | 2 | 0.5 |
| TRPV4 | 3 | 0.7 |
| GAN1 | 1 | 0.2 |
BSCL2, Berardinelli–Seip congenital lipodystrophy 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.