A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.
Ciotti P, Luigetti M, Geroldi A, Capponi S, Pezzini I, Gulli R, Pazzaglia C, Padua L, Massa R, Mandich P, Bellone E.
Ciotti P, et al.
J Neurol Sci. 2014 Aug 15;343(1-2):183-6. doi: 10.1016/j.jns.2014.05.029. Epub 2014 May 22.
J Neurol Sci. 2014.
PMID: 24880540
Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with cond …
Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE mi …