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This article has a correction

Please see: J Med Genet 1999;36:652

J Med Genet 1999;36:140-143 doi:10.1136/jmg.36.2.140
  • Short report

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

  1. Ben C J Hamela,
  2. Pieter Wesselingb,c,
  3. Willy O Renierd,
  4. Bellinda van den Helmc,
  5. Hans-Hilger Ropersa,e,
  6. Hannie Kremera,
  7. Edwin C M Marimana
  1. aDepartment of Human Genetics, University Hospital, PO Box 9101, 6500 HB Nijmegen, The Netherlands, bDepartment of Pathology, University Hospital, Nijmegen, The Netherlands, cDepartment of Neurology, University Hospital, Nijmegen, The Netherlands, dDepartment of Child Neurology, University Hospital, Nijmegen, The Netherlands, eMax Planck Institute for Molecular Genetics, Berlin, Germany
  1. Dr Hamel.
  • Received 6 February 1998
  • Revised 13 July 1998

Abstract

We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at θ=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.

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