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.
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
1 August 2014
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| 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
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| 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 |
MARC
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