Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy

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Title: Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy
Authors: Verrigni, Daniela, Di Nottia, Michela, Ardissone, Anna, Baruffini, Enrico, Nasca, Alessia, Legati, Andrea, Bellacchio, Emanuele, Fagiolari, Gigliola, Martinelli, Diego, Fusco, Lucia, Battaglia, Domenica, Trani, Giulia, Versienti, Gianmarco, Marchet, Silvia, Torraco, Alessandra, Rizza, Teresa, Verardo, Margherita, D'Amico, Adele, Diodato, Daria, Moroni, Isabella, Lamperti, Costanza, Petrini, Stefania, Moggio, Maurizio, Goffrini, Paola, Ghezzi, Daniele, Carrozzo, Rosalba, Bertini, Enrico
Source: Human mutation. 40(5):601-618
Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100090565328.0x000001&indx=1&recIds=ETOCvdc_100090565328.0x000001
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