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  • Title: Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.
    Author: Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A.
    Journal: J Neurol Neurosurg Psychiatry; 1999 Jun; 66(6):779-82. PubMed ID: 10329755.
    Abstract:
    A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124 resulting in substitution of threonine by methionine. One of the patients, presently 30 years old, showed only Argyll Robertson-like pupils as an objective sign but no clinical or electrophysiological signs of peripheral neuropathy.
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