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. 2009 Mar 11;17(6):703–710. doi: 10.1038/ejhg.2009.31

Table 1. Genetic classification of Charcot–Marie–Tooth disease and related peripheral neuropathies.

CMT Locus Gene Product OMIM
CMT1A 17p11.2 PMP22 Peripheral myelin protein 22 118220
CMT1B 1q22 MPZ Myelin protein zero 118200
CMT1C 16p13.1–p12.3 SIMPLE/LITAF SIMPLE 601098
CMT1D 10q21.1–q22.1 EGR2 Early growth response protein 2 607678
CMT1E 17p11.2 PMP22 Peripheral myelin protein 22 118220
CMT1F 8p21 NEFL Neurofilament triplet L protein 607684
CMT2A 1p36 MFN2 Mitofusin 2 118210
CMT2B 3q21 RAB7 Ras-related protein Rab-7 600882
CMT2B1 1q21.2 LMNA Lamin A/C 605588
CMT2B2 19q13.3 Unknown Unknown 605589
CMT2C 12q23–q24 Unknown Unknown 606071
CMT2D 7p15 GARS Glycyl-tRNA synthetase 601472
CMT2E/F1 8p21 NEFL Neurofilament triplet L protein 607684
CMT2F 7q11–q21 HSPB1 Heat-shock protein B1 606595
CMT2G 12q12–q13 Unknown Unknown 608591
CMT2H 8q21.3 Unknown Unknown 607731
CMT2I 1q22 MPZ Myelin protein zero 118200
CMT2J 1q22 MPZ Myelin protein zero 118200
CMT2K 8q13–q21.1 GDAP1 Ganglioside-induced differentiation protein 1 214400
CMT2L 12q24 HSPB8 Heat shock protein B8 608673
CMT4A 8q13–q21.1 GDAP1 Ganglioside-induced differentiation protein 1 214400
CMT4B1 11q22 MTMR2 Myotubularin-related protein 2 601382
CMT4B2 11p15 SBF2/MTMR13 SET binding factor 2 604563
CMT4C 5q32 SH3TC2 SH3TC2 601596
CMT4D 8q24.3 NDRG1 NDRG1 protein 601455
CMT4E 10q21.1–q22.1 EGR2 Early growth response protein 2 607678
CMT4F 19q13.1–q13.2 PRX Periaxin 145900
CMT4G 10q23.3 Unknown Unknown 605285
CMT4H 12p11.21–q13.11 FGD4 FRABIN 609311
CMT4J 6q21 FIG4 FIG4 611228
DI-CMTA 10q24.1–q25.1 Unknown Unknown 606483
DI-CMTB 19p12–13.2 DNM2 Dynamin 2 606482
DI-CMTC 1p35 YARS Tyrosyl-tRNA synthetase 608323
DI-CMTD 1q22 MPZ Myelin protein zero 607791
CMTX Xq13.1 GJB1 Gap junction β-1 protein, connexin 32 302800