Article
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
Brain : a journal of neurology - 1 Feb 2007
Fabrizi Gian Maria, Cavallaro Tiziana, Angiari Chiara, Cabrini Ilaria, Taioli Federica, Malerba Giovanni, Bertolasi Laura, Rizzuto Nicoló
Abstract excerpt
The neurofilament light chain (NF-L) is a major constituent of intermediate filaments and plays a pivotal function in the assembly and maintenance of axonal cytoskeleton. Mutations in the NF-L gene (NEFL) cause autosomal dominant neuropathies that are classified either as axonal Charcot-Marie-Tooth (CMT) type 2E (CMT2E) or demyelinating CMT type 1F (CMT1F). The pathophysiological bases of the disorder(s) are...
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