| 1 | CMT1F, NEFL |
| NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. | |
| Shin JS, Chung KW, Cho SY, Yun J, Hwang SJ, Kang SH, Cho EM, Kim SM, Choi BO. | |
| J Hum Genet 53(10):936-40. Epub 2008 Aug 29. 2008 | |
| 2 | CMT1F, CMT2E, NEFL |
| Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. | |
| Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N. | |
| Brain 130(Pt 2):394-403. Epub 2006 Oct 18. 2007 | |
| 3 | CMT1F, NEFL |
| Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. | |
| Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. | |
| Brain 126(Pt 3):590-7. 2003 | |