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Items: 4

Select item 43475651.

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

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, Kristl G Claeys

Orphanet J Rare Dis. 2014; 9: 121. Published online 2014 Aug 1. doi: 10.1186/s13023-014-0121-9

PMCID:: PMC4347565

Article PDF–657K

Select item 29004092.

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Zagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, Caoimhe McKenna, Julia Rankin, Volker Straub, Hanns Lochmüller, Francalanci Paola, Adele D’Amico, Enrico Bertini, Kate Bushby, Lev G Goldfarb

Neuromuscul Disord. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Neuromuscul Disord. 2010 Jul; 20(7): 438–442. Published online 2010 Jun 3. doi: 10.1016/j.nmd.2010.05.004