@article{SemmlerSacconiBachetal.2014, author = {Anna-Lena Semmler and Sabrina Sacconi and J. Elisa Bach and Claus Liebe and Jan B{\"u}rmann and Rudolf A. Kley and Andreas Ferbert and Roland Anderheiden and Peter Van den Bergh and Jean-Jacques Martin and Peter De Jonghe and Eva Neuen-Jacob and Oliver M{\"u}ller and Marcus Deschauer and Markus Bergmann and J. Michael Schr{\"o}der and Matthias Vorgerd and J{\"o}rg B. Schulz and Joachim Weis and Wolfram Kress and Kristl G. Claeys}, title = {Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies}, journal = {Orphanet Journal of Rare Diseases}, volume = {9}, number = {121}, doi = {10.1186/s13023-014-0121-9}, year = {2014}, }