Expanding the central nervous system disease spectrum associated with FLNC mutation.

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作者： Stefano C,Previtali ^[1] ; Marina,Scarlato ^[1] ; Paolo,Vezzulli ^[2] ; Alessandra,Ruggieri ^[3] ; Daniele,Velardo ^[1] ; Sara,Benedetti ^[4] ; Giacomo,Torini ^[5] ; Bruno,Colombo ^[6] ; Lorenzo,Maggi ^[1] ; Daniela,Di Bella ^[3] ; Cinzia,Gellera ^[7] ; Grazia,D'Angelo ^[7] ; Marina,Mora ^[4]

作者单位： InSpe (Institute of Experimental Neurology), Division of Neuroscience and Dept. of Neurology, IRCCS Ospedale San Raffaele, Milano, Italy. ^[1] Neuroradiology Department, IRCCS Ospedale San Raffaele, Milano, Italy. ^[2] Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. ^[3] Neuromuscular Disorders Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy. ^[4] Laboratory of Clinical Molecular Biology and Cytogenetics, IRCCS Ospedale San Raffaele, Milano, Italy. ^[5] Genomic Unit for the Diagnosis of Human Pathologies, Division of Genetics and Cellular Biology, IRCCS Ospedale San Raffaele, Milano, Italy. ^[6] Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. ^[7]

关键词 CNS Filamin-C MRI Myofibrillar myopathy Spinal cord