Documentation scienceplus.abes.fr version Bêta

À propos de : An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)        

AttributsValeurs
type
Is Part Of
Subject
Title
  • An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)
has manifestation of work
related by
Abstract
  • OBJECTIVES AND METHODS. Seven families were studied with an axonal form of Charcot-Marie-Tooth disease (CMT) associated with mutations in the peripheral myelin protein zero (MPZ) gene—Thr124Met or Asp75Val. RESULTS. Patients with these mutations commonly showed relatively late onset sensorimotor neuropathy predominantly involving the lower limbs. Sensory impairment typically was marked, and distal muscle atrophy and weakness were also present in the legs. Adie's pupil and deafness were often present, and serum creatine kinase concentrations were often raised irrespective of which MPZ mutation was present. Relatively well preserved motor and sensory nerve conduction velocities contrasted with reduced or absent compound muscle action potentials and sensory nerve action potentials. Axonal change with marked axonal sprouting was seen in sural nerve specimens. CONCLUSION. The similar associated clinical findings suggest that patients with axonal CMT with an MPZ gene mutation share distinctive clinical features.
article type
publisher identifier
  • 00381
is part of this journal
PubMed ID
  • 11080237



Alternative Linked Data Documents: ODE     Content Formats:       RDF       ODATA       Microdata