Charcot-Marie-Tooth diseases
Charcot-Marie-Tooth neuropathy
Demyelinating Charcot-Marie-Tooth disease is mainly characterized by the presence of myelin outfoldings on nerve biopsies.
Classification
Charcot-Marie-Tooth disease type 1 (CMT1s)
- CMT1A: Charcot-Marie-Tooth disease type 1A (MIM.118220): mutations of PMP22 (MIM.601097)
- CMT1B: Charcot-Marie-Tooth disease type 1B: 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
X-linked Charcot-Marie-Tooth diseases (CMTXs)
- CMTX1 (MIM.302800)
- CMTX2 (MIM.302801)
- CMTX3 (MIM.302802)
- CMTX4 (MIM.310490)
- CMTX5 (MIM.311070)
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)
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