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. 2012 Oct 12;3(5):204–214. doi: 10.1159/000343487

Table 1.

Genetic classification of CMT

Inheritance Demyelinating forms
Intermediate forms
Axonal forms
form gene OMIM form gene OMIM form gene OMIM
Autosomal dominant
  • CMT1A/CMT1E

  • CMT1B

  • CMT1C

  • CMT1D

  • CMT1F

  • PMP22

  • MPZ

  • LITAF

  • EGR2

  • NEFL

  • 601097

  • 159440

  • 603795

  • 129010

  • 162280

  • DI-CMTA

  • DI-CMTB

  • DI-CMTC

  • DI-CMTD

  • DI-CMTE

  • Slow SNV

  • ?

  • DNM2

  • YARS

  • MPZ

  • INF2

  • ARHGEF10

  • 602378

  • 603623

  • 159440

  • 610982

  • 608136

  • CMT2A1/2

  • CMT2B

  • CMT2C

  • CMT2D

  • CMT2E

  • CMT2F

  • CMT2G

  • CMT2I/2J

  • CMT2K

  • CMT2L

  • CMT2M

  • CMT2N

  • CMT2O

  • CMT2P

  • MFN2/KIF1B

  • RAB7

  • TRPV4

  • GARS

  • NEFL

  • HSP27 (HSPB1)

  • ?

  • MPZ

  • GDAP1

  • HSP22 (HSPB8)

  • DNM2

  • AARS

  • DYNC1H1

  • LRSAM1

  • 608507/605995

  • 602298

  • 605427

  • 600287

  • 162280

  • 602195

  • 159440

  • 606598

  • 608014

  • 602378

  • 601065

  • 600112

  • 610933

Autosomal recessive
  • CMT4A

  • CMT4B1

  • CMT4B2

  • CMT4C

  • CMT4D (HMSNL)

  • CMT4E

  • CMT4F

  • CMT4G (HMSNR)

  • CMT4H

  • CMT4J

  • GDAP1

  • MTMR2

  • MTMR13 (SBF2)

  • SH3TC2

  • NDRG1

  • EGR2/MPZ

  • PRX

  • HK1

  • FGD4

  • FIG4

  • 606598

  • 603557

  • 607697

  • 608206

  • 605262

  • 129010/159440

  • 605725

  • 611104

  • 609390

RI-CMTA GDAPl 606598
  • ARCMT2A2

  • CMT2B1

  • CMT2B2

  • CMT2H

  • CMT2P

  • MFN2

  • LMNA

  • MED25

  • GDAP1

  • LRSAM1

  • 608507

  • 150330

  • 610197

  • 606598

  • 610933

X-linked dominant CMTX1 GjBl 304040
X-linked recessive
  • CMTX2

  • CMTX3

  • CMTX4

  • CMTX5

  • ?

  • ?

  • ?

  • PRPS1

311850

Genes KARS [McLaughlin et al., 2010] and CTDP1 [Varon et al., 2003] were not considered because they are associated with syndromic conditions for which peripheral neuropathy represents only a part of the pathology. ? = Disease gene is unknown.