Charcot Marie Tooth disease 2I (CMT2I)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 2I (CMT2I). This is caused by mutations in the MPZ gene on chromosome 1q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the MPZ gene on chromosome 1q
- It is very late onset
Clinical features
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Acronym
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References
- Senderek J, Hermanns B, Lehmann U, et al. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. Brain Pathol 2000; 10:235-248.
- Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K. Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 2003; 61:1435-1437.
Related checklists
- Charcot Marie Tooth disease 2A (CMT2A)
- Charcot Marie Tooth disease 2B (CMT2B)
- Charcot Marie Tooth disease 2C (CMT2C)
- Charcot Marie Tooth disease 2D (CMT2D)
- Charcot Marie Tooth disease 2E (CMT2E)
- Charcot Marie Tooth disease 2F (CMT2F)
- Charcot Marie Tooth disease 2G (CMT2G)
- Charcot Marie Tooth disease 2H (CMT2H)
- Charcot Marie Tooth disease 2J (CMT2J)
- Charcot Marie Tooth disease 2K (CMT2K)
- Charcot Marie Tooth disease 2L (CMT2L)
- Charcot Marie Tooth disease 2M (CMT2M)
- Charcot Marie Tooth disease 2N (CMT2N)
- Charcot Marie Tooth disease 2O (CMT2O)
- Charcot Marie Tooth disease 2P (CMT2P)
- Charcot Marie Tooth disease 2Q (CMT2Q)
- Charcot Marie Tooth disease 2R (CMT2R)
- Charcot Marie Tooth disease 2S (CMT2S)
- Charcot Marie Tooth disease 2T (CMT2T)
- Charcot Marie Tooth disease 2U (CMT2U)
- Charcot Marie Tooth disease 2V (CMT2V)
- Charcot Marie Tooth disease 2W (CMT2W)
- Charcot Marie Tooth disease 2X (CMT2X)
- Charcot Marie Tooth disease 2Y (CMT2Y)
- Charcot Marie Tooth disease 2Z (CMT2Z)
