Classification

 Charcot-Marie-Tooth disease type 1 (CMT1s)

• Charcot-Marie-Tooth disease type 1A (CMT1A) (MIM.118220): mutations of PMP22 (MIM.601097)
• Charcot-Marie-Tooth disease type 1B (CMT1B): mutations of MPZ (MIM.159440)
   CMT1C (MIM.601098)
   CMT1D (MIM.607678)
   CMT1E (MIM.607734)
   CMT1F (MIM.607734)

 Charcot-Marie-Tooth disease type 2 (CMT2s)

• CMT2A
• CMT2B Charcot-Marie-Tooth disease type 2B (mutations in the small GTP-ase late endosomal protein RAB7)
• CMT2C
• CMT2D Charcot-Marie-Tooth disease type 2D
• CMT2E
• CMT2F Charcot-Marie-Tooth disease type 2F (MIM.606595): mutation in HSPB1 (HSP27) (MIM.602195) (#15122254#)
• CMT2G
• CMT2H
• CMT2I
• CMT2J
• CMT2K
• CMT2L

 Charcot-Marie-Tooth disease type 3 (CMT3s)

 Charcot-Marie-Tooth disease type 4 (CMT4s)

• CMT4A Charcot-Marie-Tooth disease type 4A (GDAP1 mutations)
• CMT4B1 Charcot-Marie-Tooth disease Type 4B1 (MIM.601382) : mutations in the MTMR2 gene (MIM.603557), coding for myotubularin-related protein-2
• CMT4B2
• CMT4C Charcot-Marie-Tooth disease Type 4C (mutations in the CMT4C gene)
• CMT4D

 other variants

• dominant intermediate Charcot-Marie-Tooth
  • dominant intermediate Charcot-Marie-Tooth disease type A
  • dominant intermediate Charcot-Marie-Tooth disease type B (MIM.606482) (DNM2 germline mutations)

• Charcot-Marie-Tooth disease associated with early-onset glaucoma (11p15)

References

 Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. PMID: #14685682#

 Tanaka Y, Hirokawa N. Mouse models of Charcot-Marie-Tooth disease. Trends Genet. 2002 Dec;18(12):S39-44. PMID: #12446157#