Article Text

PDF

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.
  1. Y J Crow,
  2. S M Zuberi,
  3. R McWilliam,
  4. J L Tolmie,
  5. A Hollman,
  6. K Pohl,
  7. J B Stephenson
  1. Department of Clinical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK.

    Abstract

    The Coffin-Lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital features. We have observed an unusual, non-epileptic, cataplexy-like phenomenon in three subjects with the syndrome and we speculate that this feature may go unrecognised. We also provide evidence of neuromuscular dysfunction as part of the phenotype by showing abnormalities on muscle ultrasound in four gene carriers.

    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.

    Linked Articles