Article
Phenotype of Charcot-Marie-Tooth disease Type 2.
Neurology - 15 May 2007
Bienfait H M E, Baas F, Koelman J H T M, de Haan R J, van Engelen B G M, Gabreëls-Festen A A W M, Ongerboer de Visser B W, Meggouh F, Weterman M A J, De Jonghe P, Timmerman V, de Visser M
Abstract excerpt
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 Type 2 genes. RESULTS: Sixty-one persons from 18 families...
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