Charcot Marie Tooth disease 2U (CMT2U)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 2U (CMT2U). This is caused by mutations in the MARS gene on chromosome 12q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the MARS gene on chromosome 12q
- It is late onset age
Clinical features
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Acronym
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References
- Gonzalez M, McLaughlin H, Houlden H, et al; Inherited Neuropathy Consortium. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. JNNP 2013; 84:1247-1249.
- Hyun YS, Park HJ, Heo SH, et al. Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy. Clin Genet 2014; 86:592-594.
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 2I (CMT2I)
- 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 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)
