Article
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Orphanet journal of rare diseases - 1 Aug 2014
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 G
Abstract excerpt
BACKGROUND: 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. METHODS: We screened a large cohort of 38 index pat...
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