Article
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Neurology - 5 Jul 2016
Savarese Marco, Di Fruscio Giuseppina, Torella Annalaura, Fiorillo Chiara, Magri Francesca, Fanin Marina, Ruggiero Lucia, Ricci Giulia, Astrea Guja, Passamano Luigia, Ruggieri Alessandra, Ronchi Dario, Tasca Giorgio, D'Amico Adele, Janssens Sandra, Farina Olimpia, Mutarelli Margherita, Marwah Veer Singh, Garofalo Arcomaria, Giugliano Teresa, Sampaolo Simone, Del Vecchio Blanco Francesca, Esposito Gaia, Piluso Giulio, D'Ambrosio Paola, Petillo Roberta, Musumeci Olimpia, Rodolico Carmelo, Messina Sonia, Evilä Anni, Hackman Peter, Filosto Massimiliano, Di Iorio Giuseppe, Siciliano Gabriele, Mora Marina, Maggi Lorenzo, Minetti Carlo, Sacconi Sabrina, Santoro Lucio, Claes Kathleen, Vercelli Liliana, Mongini Tiziana, Ricci Enzo, Gualandi Francesca, Tupler Rossella, De Bleecker Jan, Udd Bjarne, Toscano Antonio, Moggio Maurizio, Pegoraro Elena, Bertini Enrico, Mercuri Eugenio, Angelini Corrado, Santorelli Filippo Maria, Politano Luisa, Bruno Claudio, Comi Giacomo Pietro, Nigro Vincenzo
Abstract excerpt
OBJECTIVE: To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of patients. METHODS: We applied an NGS-based platform named MotorPlex to our diagnostic workflow to test muscle disease genes with a high sensitivity and specificity for small DNA variants. We analyzed 504 undiagnosed patients mostly referred as...
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