Charcot–Marie–Tooth disease subtype associated with individual genes in patients attending an inherited neuropathy clinic
| CMT1 | CMT2 | ICMT | |
| PMP22 duplication | 168 | ||
| PMP22 point mutation | 5 | 1 | |
| GJB1 | 1 | 8 | 33 |
| MPZ | 9 | 1 | 1 |
| MFN2 | 12 | ||
| LITAF | 4 | ||
| NEFL | 2 | ||
| SH3TC2 | 3 | 2 | |
| MTMR2 | 1 | ||
| BSCL2 | 1 | ||
| GDAP1 | 1 | 1 | |
| HSPB1 | 2 | ||
| TRPV4 | 3 | ||
| GAN1 | 1 |
BSCL2, Berardinelli–Seip congenital lipodystrophy 2; CMT, Charcot–Marie–Tooth disease; CMT1, demyelinating CMT; CMT2, axonal CMT; GAN1, gigaxonin; GDAP1, ganglioside induced differentiation associated protein 1; GJB1, gap junction β1; HSPB1, heat shock 27 kDa protein 1; ICMT, intermediate CMT; 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.