Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.
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.
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001369:Axons; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013497:Sural Nerve / Q000473:pathology