Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

We studied 786 undiagnosed patients with LGMD or nonspecific myopathic features to investigate the role of ANO5 mutations in limb-girdle muscular dystrophies (LGMDs) and in nonspecific myopathies using the next generation sequencing (NGS) approach. In 160 LGMD patients, we first sequenced hotspot ex...

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Veröffentlicht in:Neuromuscul Disord
Hauptverfasser: Savarese, Marco, Di Fruscio, Giuseppina, Tasca, Giorgio, Ruggiero, Lucia, Janssens, Sandra, De Bleecker, Jan, Delpech, Marc, Musumeci, Olimpia, Toscano, Antonio, Angelini, Corrado, Sacconi, Sabrina, Santoro, Lucio, Ricci, Enzo, Claes, Kathleen, Politano, Luisa, Nigro, Vincenzo
Format: Artigo
Sprache:Inglês
Veröffentlicht: Pergamon Press 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4502439/
https://ncbi.nlm.nih.gov/pubmed/25891276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2015.03.011
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