Charcot Marie Tooth disease 1D (CMT1D)
Evidence-based neurology checklist on charcot marie tooth disease 1d (cmt1d): Genetics This is caused by mutations in the EGR2 gene on chromosome 10q This is usually very early onset but adult onset cases have been reported Clinical features Severe phenotypes Acronym
Genetics
- This is caused by mutations in the EGR2 gene on chromosome 10q
- This is usually very early onset but adult onset cases have been reported
Clinical features
Severe phenotypes
Acronym
References
- Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
- Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
- Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998; 18:382-384.
- Briani C, Taioli F, Lucchetta M, Bombardi R, Fabrizi GM. Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. Muscle Nerve 2010; 41:888-889.
- Shiga K, Noto Y, Mizuta I, Hashiguchi A, Takashima H, Nakagawa M. A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2012; 17:206-209.
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