A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

Clin Neurol Neurosurg. 2010 Nov;112(9):794-7. doi: 10.1016/j.clineuro.2010.05.001. Epub 2010 May 26.


Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). The most common demyelinating form is CMT1A, due to a duplication in the gene encoding the peripheral myelin protein 22 (PMP22). Less frequently, mutations in the myelin protein zero gene (MPZ/P0) account for demyelinating CMT1B. Herein, we report a patient presenting with an isolated hyperCKemia in whom electrophysiological and pathological findings revealed a demyelinating and axonal neuropathy. Sequencing of the MPZ gene revealed a 306delA at codon 102 in the proband and in two relatives. This mutation has been already described in association with paucisymptomatic CMT without hyperCKemia.

Publication types

  • Case Reports

MeSH terms

  • Action Potentials / physiology
  • Adult
  • Axons / pathology
  • Biopsy
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Codon / genetics
  • Creatine Kinase / blood*
  • Diagnosis
  • Electromyography
  • Family
  • Genetic Testing
  • Humans
  • Male
  • Motor Neurons / physiology
  • Mutation / physiology*
  • Myelin P0 Protein / genetics*
  • Neural Conduction / physiology
  • Neurologic Examination
  • Peripheral Nerves / physiopathology
  • Sensory Receptor Cells / physiology


  • Codon
  • Myelin P0 Protein
  • Creatine Kinase