Novel MPZ mutations and congenital hypomyelinating neuropathy

Neuromuscul Disord. 2010 Nov;20(11):725-9. doi: 10.1016/j.nmd.2010.06.004.


We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve biopsy. The cases illustrate the clinically heterogeneity that exists even within early-onset forms of this disease. They also lend additional support to the emerging clinical and laboratory evidence that impaired intracellular protein trafficking may represent the cause of some congenital hypomyelinating neuropathies.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / physiopathology
  • Child, Preschool
  • Electrodiagnosis
  • Humans
  • Infant
  • Male
  • Mutation
  • Myelin P0 Protein / genetics*
  • Neural Conduction / physiology
  • Sural Nerve / pathology*
  • Sural Nerve / physiopathology


  • Myelin P0 Protein

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 4E