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.
Jordanova A, et al. Among authors: papasozomenos sch.
Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059.
Brain. 2003.
PMID: 12566280