Table 1: Summary of CMT classification, including clinical data (such as electrophysiological results) and molecular findings.

Dominant forms

CMT 1 (demyelinating)

TypeGeneInheritanceLocus

CMT1A:PMP-22Dominant/sporadic17p11
CMT1B:P0 proteinDominant1q22
CMT1C:LITAFDominant16p13
CMT1D:EGR2Dominant10q21
CMT1E:P0 proteinDominant1q22
CMT1F:NeurofilamentDominant/sporadic8p21
Light chain

CMT 2 (axonal)

TypeGeneInheritanceLocus

CMT 2A1:KIF1BDominant1p36
CMT 2A2:MFN2Dominant1p36
CMT 2B:RAB7Dominant3q13-q22
CMT 2C:Dominant12q23-q24
CMT 2D:GARSDominant7p15
CMT 2E:Neurofilament light chainDominant8p21
CMT 2F:HSPB1Dominant/recessive7q11-q21
CMT 2G:Dominant12q12
CMT 2I:P0Dominant1q22
CMT 2J:P0Dominant1q22
CMT 2L:HSPB8Dominant12q24
AR-CMT2ALamin A/CRecessive1q21.2
AR-CMT2BMed25Recessive19q13.3
CMT 2K:GDAP1Recessive/dominant8q21

Intermediate NCV

TypeGeneInheritanceLocus

Connexin-32GJB1X-linkedXq13
CMT DIADominant10q24
CMT DIBDNM2Dominant19p12
CMT DICTyrosyl-tRNA synthetaseDominant1p34
CMT DI3P0Dominant1q22
CMT 2E:Neurofilament light chainDominant8p21

CMT 4

TypeGeneInheritanceLocus

CMT 4A:GDAP1Recessive8q21
CMT 4B1:MTMR2Recessive11q23
CMT 4B2:SBF2Recessive11p15
CMT 4C:SH3TC2 (KIAA1985)Recessive5q32
CMT 4D (Lom):NDRG1Recessive8q24
CMT 4E:EGR2Recessive/dominant10q21
CMT 4F:PeriaxinRecessive19q13
HMSN-Russe(4G)Recessive10q23
CMT 4H:FGD4Recessive12q12