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  • POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

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Genome-wide studies
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
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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
Journal of Medical Genetics 2014;51:275-282.

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

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