Article
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Brain : a journal of neurology - 1 Mar 2003
Jordanova A, De Jonghe P, Boerkoel C F, Takashima H, De Vriendt E, Ceuterick C, Martin J-J, Butler I J, Mancias P, Papasozomenos S Ch, Terespolsky D, Potocki L, Brown C W, Shy M, Rita D A, Tournev I, Kremensky I, Lupski J R, Timmerman V
Abstract excerpt
Neurofilament light chain polypeptide (NEFL) is one of the most abundant cytoskeletal components of the neuron. Mutations in the NEFL gene were recently reported as a cause for autosomal dominant Charcot-Marie-Tooth type 2E (CMT2E) linked to chromosome 8p21. In order to investigate the frequency and phenotypic consequences of NEFL mutations, we screened 323 patients with CMT or related peripheral neuropathies. We...
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