Title: Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Authors: Semmler, Anna-Lena
Sacconi, Sabrina
Bach, J Elisa
Liebe, Claus
Bürmann, Jan
Kley, Rudolf A
Ferbert, Andreas
Anderheiden, Roland
Van den Bergh, Peter
Martin, Jean-Jacques
De Jonghe, Peter
Neuen-Jacob, Eva
Müller, Oliver
Deschauer, Marcus
Bergmann, Markus
Schröder, J Michael
Vorgerd, Matthias
Schulz, Jörg B
Weis, Joachim
Kress, Wolfram
Claeys, Kristl # ×
Issue Date: 2014
Publisher: BioMed Central
Series Title: Orphanet Journal of Rare Diseases vol:9 pages:121
Article number: 10.1186/s13023-014-0121-9
Abstract: 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.
ISSN: 1750-1172
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
× corresponding author
# (joint) last author

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