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, 9 |
Authors: | Semmler AL ; Sacconi S ; Bach J ; Liebe C ; Bürmann J ; Kley RA ; Ferbert A ; Anderheiden R ; van den Bergh P ; Martin JJ ; De Jonghe P ; Neuen-Jacob E ; Müller O ; Deschauer M ; Bergmann M ; Schroder J ; Vorgerd M ; Schulz JB ; Weis J ; Kress W ; Claeys KG |
Material Type: | Article |
Publication Date: | 2014 |
Languages: | English |
Keywords : | anatomopathology ; audition disorders ; BAG3 gene ; genetic mutations ; loongitudinal study ; multisystemic disease ; myofibrillar myopathy ; orbicularis oculi muscle ; phenotypes ; sequencing |
Pubmed / DOI : | DOI : 10.1186/s13023-014-0121-9 / Pubmed : 25208129 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25208129 |
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