Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Scopus)


Congenital hypomyelinating neuropathy is a rare condition characterized by prenatal, neonatal or early infantile onset of hypotonia, paresis and areflexia. Most of the few patients described in literature die within the first years of life. Histopathologically there are no or thin myelin sheaths. Mutations have been described in the following genes, MPZ, EGR2, PMP22, and MTMR2. Here we describe a family with a heterozygous mutation in MPZ, confirmed in two generations. (C) 2007 Elsevier B.V. All rights reserved.
Original languageUndefined/Unknown
Pages (from-to)59-62
Number of pages4
JournalNeuromuscular Disorders
Issue number1
Publication statusPublished - 2008

Research programs

  • EMC MM-03-54-04-A
  • EMC MM-04-44-02

Cite this