You are here

Article Text

Article menu
Download PDFPDF
Research Article
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).
  1. G C Black,
  2. R Perveen,
  3. E Hatchwell,
  4. A Reck,
  5. J Clayton-Smith
  1. Department of Medical Genetics, St Mary's Hospital, Manchester, UK.

    Abstract

    Congenital external ophthalmoplegia (CFEOM) is an uncommon autosomal dominant condition that has previously been mapped to the pericentromeric region of chromosome 12 in seven families with no evidence of locus heterogeneity. We report three families with typical CFEOM. One family does not map to this region of chromosome 12 or to other chromosomal locations implicated in disorders of lid or ocular movement. Recombinants in two CFEOM families potentially help to reduce the size of the candidate region on chromosome 12.

    https://doi.org/10.1136/jmg.35.12.985

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.