Table 1

Frequency of CMT subtypes

CMT subtype (mutation)nPatients with genetic diagnosis (n=997; %)Total patients (n=1652; %)Total patients reported in prior studies at WS (n=787; %) and L (n=425; %)1014
Frequency of common CMT subtypes
 CMT1A (PMP22dup)61461.637.236.9 WS/39.5 L
 CMT1X (GJB1)10710.76.510.2 WS/10.8 L
 CMT2A (MFN2)707.04.22.7 WS/2.8 L
 CMT1B (MPZ)676.74.15.7 WS/3.1 L
 HNPP (PMP22 del)313.11.96.1 WS/5.7 L
 Total88989.253.861.5 WS/62.5 L
Frequency of rare CMT1 subtypes
 CMT1E (PMP22) WS/1.4 L
 CMT1F (NEFL)40.400.240.5 L
Frequency of rare CMT2 subtypes
 CMT2C (TRPV4)30.300.180.7 L
 CMT2E (NEFL)70.700.420.5 WS
 CMT2K (GDAP1)30.300.180.6 WS
Frequency of CMT4 subtypes
 CMT4A (GDAP1)60.600.360.1 WS/0.5 L
 CMT4C (SH3TC2)141.40.850.4 WS/1.2 L
 CMT4F (PRX)30.300.180.1 WS
 CMT4H (FGD4)10.100.06
 CMT4J (FIG4)40.400.240.3 WS
 AR CMT2A (LMNA)20.20.12
Frequency of HMN subtypes
 HMN2B (HSPB1)70.700.420.5 L
 HMN2A (HSPB8)10.100.06
 HMN5A (BSCL2)50.500.300.2 L
Frequency of HSN subtypes
 HSN1 (SPTLC1)242.41.5
  • The diseases and genes are named according to OMIM ( and HUGO (, respectively. AR, Autosomal Recessive; CMT, Charcot-Marie-Tooth; del, deletion; dup, duplicate; HMN, hereditary motor neuropath; HNPP, hereditary neuropathy with liability to pressure palsy; HSN, hereditary sensory neuropathy; L, London; WS, Wayne State.