Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

doi:10.1016/j.nmd.2018.03.011

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Article

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Neuromuscular disorders : NMD - 1 Jul 2018

Savarese Marco, Torella Annalaura, Musumeci Olimpia, Angelini Corrado, Astrea Guja, Bello Luca, Bruno Claudio, Comi Giacomo Pietro, Di Fruscio Giuseppina, Piluso Giulio, Di Iorio Giuseppe, Ergoli Manuela, Esposito Gaia, Fanin Marina, Farina Olimpia, Fiorillo Chiara, Garofalo Arcomaria, Giugliano Teresa, Magri Francesca, Minetti Carlo, Moggio Maurizio, Passamano Luigia, Pegoraro Elena, Picillo Ester, Sampaolo Simone, Santorelli Filippo Maria, Semplicini Claudio, Udd Bjarne, Toscano Antonio, Politano Luisa, Nigro Vincenzo

Abstract excerpt

Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemia and/or limb-girdle muscular weakness. By using MotorPlex, a targeted gene panel for next generation sequencing, we analyzed GAA and other muscle disease-genes in a...

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PMID: 29880332
DOI: 10.1016/j.nmd.2018.03.011

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