Article info

Download PDFPDF
Original article
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

Authors

  • Anja von Renesse Department of Neuropediatrics, Charité—Universitätsmedizin Berlin, Berlin, Germany NeuroCure Clinical Research Center, Charité—Universitätsmedizin Berlin, Berlin, Germany; PubMed articlesGoogle scholar articles
  • Mina V Petkova Department of Neuropediatrics, Charité—Universitätsmedizin Berlin, Berlin, Germany NeuroCure Clinical Research Center, Charité—Universitätsmedizin Berlin, Berlin, Germany; PubMed articlesGoogle scholar articles
  • Susanne Lützkendorf Department of Neuropediatrics, Charité—Universitätsmedizin Berlin, Berlin, Germany NeuroCure Clinical Research Center, Charité—Universitätsmedizin Berlin, Berlin, Germany; PubMed articlesGoogle scholar articles
  • Jan Heinemeyer Department of Neuropediatrics, Charité—Universitätsmedizin Berlin, Berlin, Germany Division Neuropediatrics, Children's Hospital Altona, Hamburg, Germany PubMed articlesGoogle scholar articles
  • Esther Gill Department of Neuropediatrics, Charité—Universitätsmedizin Berlin, Berlin, Germany NeuroCure Clinical Research Center, Charité—Universitätsmedizin Berlin, Berlin, Germany; PubMed articlesGoogle scholar articles
  • Christoph Hübner Department of Neuropediatrics, Charité—Universitätsmedizin Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Arpad von Moers Department of Pediatrics, DRK Kliniken Berlin Westend, Berlin, Germany PubMed articlesGoogle scholar articles
  • Werner Stenzel Department of Neuropathology, Charité—Universitätsmedizin Berlin, Berlin, Germany. PubMed articlesGoogle scholar articles
  • Markus Schuelke Department of Neuropediatrics, Charité—Universitätsmedizin Berlin, Berlin, Germany NeuroCure Clinical Research Center, Charité—Universitätsmedizin Berlin, Berlin, Germany; PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Markus Schuelke, Department of Neuropediatrics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany; markus.schuelke{at}charite.de
View Full Text

Citation

von Renesse A, Petkova MV, Lützkendorf S, et al
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

Publication history

  • Received December 18, 2013
  • Revised January 27, 2014
  • Accepted January 30, 2014
  • First published February 20, 2014.
Online issue publication 
March 17, 2014

Article Versions

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.