Congenital hypomyelination due to myelin protein zero Q215X mutation

P. Mandich, G. L. Mancardi, A. Varese, S. Soriani, E. Di Maria, E. Bellone, M. Bado, L. Gross, A. J. Windebank, F. Ajmar, A. Schenone

Research output: Contribution to journalArticlepeer-review

39 Scopus citations

Abstract

Congenital hypomyelination (CH) is a hereditary demyelinating peripheral neuropathy characterized by early infancy onset, distal muscle weakness, hypotonia, areflexia, and severe slowing of nerve conduction velocities. In the present report, the clinical, morphological, and immunohistochemical features of a CH case and the identification of a mutation in the gene (MPZ) for protein zero (P0) associated with this phenotype are described. This 'de novo' mutation in a patient presenting with clinical features quite distinct from those of the more frequent Charcot-Marie-Tooth type 1B disease (CMT1B) or Dejerine-Sottas syndrome (DSS) confirms that CH is allelic with other disorders characterized by a less severe phenotype and a different clinical and neuropathological profile.

Original languageEnglish (US)
Pages (from-to)676-678
Number of pages3
JournalAnnals of neurology
Volume45
Issue number5
DOIs
StatePublished - May 19 1999

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Congenital hypomyelination due to myelin protein zero Q215X mutation'. Together they form a unique fingerprint.

Cite this