Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.

@article{Fabrizi2004GiantAA,
  title={Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.},
  author={Gian Maria Fabrizi and Tiziana L Cavallaro and Chiara Angiari and Laura Bertolasi and Ilaria Cabrini and Moreno Ferrarini and Nicol{\'o} Rizzuto},
  journal={Neurology},
  year={2004},
  volume={62 8},
  pages={1429-31}
}
The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0. 

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