• Media type: E-Article
  • Title: Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
  • Contributor: Semmler, Anna-Lena [Author]; Sacconi, Sabrina [Author]; De Jonghe, Peter [Author]; Neuen-Jacob, Eva [Author]; Müller, Oliver [Author]; Deschauer, Marcus [Author]; Bergmann, Markus [Author]; Schröder, J Michael [Author]; Vorgerd, Matthias [Author]; Schulz, Jörg B. [Author]; Weis, Joachim [Author]; Kress, Wolfram [Author]; Bach, J Elisa [Author]; Claeys, Kristl G [Author]; Liebe, Claus [Author]; Bürmann, Jan [Author]; Kley, Rudolf A [Author]; Ferbert, Andreas [Author]; Anderheiden, Roland [Author]; Van den Bergh, Peter [Author]; Martin, Jean-Jacques [Author]
  • imprint: BioMed Central, 2014
  • Published in: Orphanet journal of rare diseases 9(1), 121 (2014). doi:10.1186/s13023-014-0121-9
  • Language: English
  • DOI: https://doi.org/10.1186/s13023-014-0121-9
  • ISSN: 1750-1172
  • Origination:
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  • Access State: Open Access