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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet journal of rare diseases 2014 9 121. 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 |
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