Title: | Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease |
Journal : | Neuromuscular disorders : NMD |
Authors: | Savarese M, Author ; Torella A ; Musumeci O ; Angelini C ; Astrea G ; Bello L ; Bruno C ; Comi GP ; Di Fruscio G ; Piluso G ; Di iorio G ; Ergoli M ; Esposito G ; Fanin M ; Farina O ; Fiorillo C ; Garofalo A ; Giugliano T ; Magri F ; Minetti C ; Moggio M ; Passamano L ; Pegoraro E ; Picillo E ; Sampaolo S ; Santorelli FM ; Semplicini C ; Udd B ; Toscano A ; Politano L ; Nigro V |
Material Type: | Article |
Publication Date: | 09/04/2018 |
Languages: | English |
Keywords: | GAA;Gene panels;HyperCKemia;LGMD;Late onset Pompe disease (LOPD);Metabolic myopathies; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2018.03.011 / Pubmed : 29880332 |
N° Profil MNM : | 2018061 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29880332 |