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The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Neuromuscul Disord. 2004 Feb;14(2):147-57. doi: 10.1016/j.nmd.2003.10.003.
Neuromuscul Disord. 2004.
PMID: 14733962
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N.
Fabrizi GM, et al.
Brain. 2007 Feb;130(Pt 2):394-403. doi: 10.1093/brain/awl284. Epub 2006 Oct 18.
Brain. 2007.
PMID: 17052987
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