Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita

Kevin B. Boylan, Donna M. Ferriero, Claudia M. Greco, R. Ann Sheldon, Michael Dew

Research output: Contribution to journalArticlepeer-review

44 Scopus citations

Abstract

A term male infant is described with an isolated disorder of peripheral myelination. At necropsy, the great majority of medium‐to‐large axons were unmyelinated. Electron microscopy showed normal axons and redundant lamination of basement membrane, suggestive of early onion bulb pathology. Immunohistochemistry of peripheral nerve showed deficiency of the myelin proteins P2 and Po, myelin basic protein, and myelin‐associated glycoprotein. Arrest of peripheral myelination at the promyelin stage appears to be the origin of myelin deficiency.

Original languageEnglish (US)
Pages (from-to)337-340
Number of pages4
JournalAnnals of neurology
Volume31
Issue number3
DOIs
StatePublished - Mar 1992

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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