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

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 patien...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4347565/
https://ncbi.nlm.nih.gov/pubmed/25208129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0121-9
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