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Neurogenetics
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Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

Authors

  • Johann Böhm Departement of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm U1258, CNRS UMR7104, Université de Strasbourg, Illkirch, France PubMed articlesGoogle scholar articles
  • Edoardo Malfatti Morphological Unit, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Emily Oates Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, New South Wales, Australia School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Kristi Jones Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, New South Wales, Australia Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Guy Brochier Morphological Unit, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Anne Boland Centre National de Recherche en Génomique Humaine (CNRGH), Institut de biologie François Jacob, CEA, Évry, France PubMed articlesGoogle scholar articles
  • Jean-François Deleuze Centre National de Recherche en Génomique Humaine (CNRGH), Institut de biologie François Jacob, CEA, Évry, France PubMed articlesGoogle scholar articles
  • Norma Beatriz Romero Morphological Unit, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Jocelyn Laporte Departement of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm U1258, CNRS UMR7104, Université de Strasbourg, Illkirch, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Johann Böhm, Departement of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm U1258, CNRS UMR7104, Université de Strasbourg, Illkirch 67404, France; johann{at}igbmc.fr
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Citation

Böhm J, Malfatti E, Oates E, et al
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Journal of Medical Genetics 2019;56:617-621.

Publication history

  • Received March 21, 2018
  • Revised August 3, 2018
  • Accepted September 22, 2018
  • First published October 16, 2018.
Online issue publication 
August 21, 2019

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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.