@article {Chapon779, author = {F Chapon and P Latour and P Diraison and S Schaeffer and A Vandenberghe}, title = {Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene}, volume = {66}, number = {6}, pages = {779--782}, year = {1999}, doi = {10.1136/jnnp.66.6.779}, publisher = {BMJ Publishing Group Ltd}, 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.}, issn = {0022-3050}, URL = {https://jnnp.bmj.com/content/66/6/779}, eprint = {https://jnnp.bmj.com/content/66/6/779.full.pdf}, journal = {Journal of Neurology, Neurosurgery \& Psychiatry} }