title: Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect.
abstract: Neurofilaments (NFs) have been shown to be involved in the molecular pathology of numerous neurode-generative human disorders. Recently a set of mutations in the neurofilament light gene (NF-L) was reported in patients suffering from axonal and demyelinating forms of Charcot-Marie-Tooth disease (CMT1 and CMT2). Although a few of the NEFL gene sequence variants have been shown to be rather pathogenous mutations than harmless polymorphisms, the status of some of these variants remains unclear. The aim of this study was to analyse a potential pathogenous effect of the mutations in the NEFL gene identified in CMT affected patients.
authors.affiliation: Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland. andko@cmdik.pan.pl
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016900:Neurofilament Proteins / Q000235:genetics*
chemical_list: D016900:Neurofilament Proteins; C044882:neurofilament protein L