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. 1999 Jun;66(6):779-82.
doi: 10.1136/jnnp.66.6.779.

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

F Chapon  1 , P Latour, P Diraison, S Schaeffer, A Vandenberghe
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Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

F Chapon et al. J Neurol Neurosurg Psychiatry. 1999 Jun.

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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