Phenotype of Charcot-Marie-Tooth disease Type 2.


OBJECTIVE To investigate the clinical and electrophysiologic phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 in a large number of affected families. METHODS We excluded CMT Type 1, hereditary neuropathy with liability to pressure palsies, and CMT due to Cx32 gene mutations by DNA analysis. We performed genetic analysis of the presently known CMT… (More)


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@article{Bienfait2007PhenotypeOC, title={Phenotype of Charcot-Marie-Tooth disease Type 2.}, author={Henriette M.E. Bienfait and Frank Baas and Johannes H. T. M. Koelman and Rob J. de Haan and Baziel G. M. van Engelen and Anneke A. W. M. Gabre{\"{e}ls-Festen and Bram W Ongerboer de Visser and Farid Meggouh and Mar{\'i}a Anna Josepha Weterman and Peter de Jonghe and Vincent Timmerman and M de Visser}, journal={Neurology}, year={2007}, volume={68 20}, pages={1658-67} }