Charcot Marie Tooth disease 1F (CMT1F)
Evidence-based neurology checklist on charcot marie tooth disease 1f (cmt1f): Genetics This is caused by mutations in the NEFL gene on chromosome 8p This is also associated with CMT2E It is childhood or infantile onset Main clinical features Occasional clinical features Nerve conduction studies…
Genetics
- This is caused by mutations in the NEFL gene on chromosome 8p
- This is also associated with CMT2E
- It is childhood or infantile onset
Main clinical features
Occasional clinical features
Nerve conduction studies (NCV)
Visual evoked potentials
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.
- Shin JS, Chung KW, Cho SY, et al. NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. J Hum Genet 2008; 53:936-940.
- Jordanova A, De Jonghe P, Boerkoel CF, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003; 126:590-597.
- Abe A, Numakura C, Saito K, et al. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet 2009; 54:94-97.
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