Charcot Marie Tooth disease type X (CMTX): genetic subtypes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease type X (CMTX): genetic subtypes. This is caused by mutations in the GJB1 gene on chromosome Xq13.
CMTX1
- This is caused by mutations in the GJB1 gene on chromosome Xq13
- The gene codes for connexin 32 (CX32)
CMTX2
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CMTX3
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CMTX4
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CMTX5
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CMTX6
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Other CMT forms
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Acronyms
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References
- Dubourg O, Tardieu S, Birouk N, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001; 124:1958-1967.
- Kim HJ, Hong SH, Ki CS, et al. A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. Neurology 2005; 64:1964-1967.
- Hahn AF, Brown WF, Koopman WJ, Feasby TE. X-linked dominant hereditary motor and sensory neuropathy. Brain 1990; 113:1511-1525.
- Fain PR, Barker DF, Chance PF. Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy. Am J Hum Genet 1994; 54:229-235.
- Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA. A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. Neurology 2011; 76:461-466.
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