Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation

Ann Neurol. 2003 Sep;54(3):398-402. doi: 10.1002/ana.10681.


We report a case of congenital hypomyelination associated with cranial nerve dysfunction, respiratory failure, and hypertrophic cardiomyopathy confounding the clinical picture. Molecular genetic testing showed a complex de novo myelin protein zero (MPZ) mutation consisting of a 3bp deletion of CTA from nucleotide 550 to 552 and insertion of G at nucleotide 550 that by conceptual translation results in a frameshift mutation. Muscle biopsy findings are presented that allude to the effect of abnormal innervation on early postnatal muscle differentiation.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cell Differentiation
  • Child, Preschool
  • DNA Mutational Analysis
  • Demyelinating Diseases / congenital*
  • Demyelinating Diseases / genetics
  • Demyelinating Diseases / pathology
  • Demyelinating Diseases / physiopathology
  • Female
  • Frameshift Mutation
  • Humans
  • Infant
  • Infant, Newborn
  • Microscopy, Electron
  • Molecular Sequence Data
  • Muscle, Skeletal / cytology
  • Muscle, Skeletal / innervation*
  • Muscle, Skeletal / pathology*
  • Myelin P0 Protein / genetics*
  • Polymerase Chain Reaction
  • Sural Nerve / pathology


  • Myelin P0 Protein