Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement.

Bibliographic Details

Main Authors:	Semmler, Anna-Lena (Author) , Sacconi, Sabrina (Author) , Bach, J. Elisa (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) , De Jonghe, Peter (Author) , Neuen-Jacob, Eva (Author) , Müller, Oliver J. (Author) , Deschauer, Marcus (Author) , Bergmann, Markus (Author) , Schröder, J. Michael (Author) , Vorgerd, Matthias (Author) , Schulz, Jörg B. (Author) , Weis, Joachim (Author) , Kress, Wolfram (Author) , Claeys, Kristl G. (Author)
Format:	Article (Journal)
Language:	English
Published:	1 August 2014
In:	Orphanet journal of rare diseases Year: 2014, Volume: 9, Pages: 1-13
ISSN:	1750-1172
DOI:	10.1186/s13023-014-0121-9
Online Access:	Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-014-0121-9
Author Notes:	Anna-Lena Semmler, Sabrina Sacconi, J. Elisa Bach, Claus Liebe, Jan Bürmann, Rudolf A. Kley, Andreas Ferbert, Roland Anderheiden, Peter Van den Bergh, Jean-Jacques Martin, Peter De Jonghe, Eva Neuen-Jacob, Oliver Müller, Marcus Deschauer, Markus Bergmann, J. Michael Schröder, Matthias Vorgerd, Jörg B. Schulz, Joachim Weis, Wolfram Kress and Kristl G. Claeys