Article
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Neuromuscular disorders : NMD - 1 Jul 2015
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
Abstract excerpt
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 exons 5 and 20 and then sequenced the remaining part of the coding region. Another 626 patients, recruited using...
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