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Neurology. 2004 Apr 27;62(8):1429-31.

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

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1
Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Italy. gianmaria.fabrizi@univr.it

Abstract

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.

PMID:
15111691
[Indexed for MEDLINE]
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