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Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients.

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第一作者： Chiara,Panicucci

第一单位： Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.

作者： Chiara,Panicucci ^[1] ; Sara,Casalini ^[1] ; Beatrice M,Damasio ^[2] ; Noemi,Brolatti ^[3] ; Marina,Pedemonte ^[3] ; Alessandra,Biolcati Rinaldi ^[4] ; Simone,Morando ^[1] ; Luca,Doglio ^[5] ; Lizzia,Raffaghello ^[1] ; Chiara,Fiorillo ^[6] ; Federico,Zara ^[7] ; Giorgio,Tasca ^[8] ; Claudio,Bruno ^[9]

作者单位： Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy. ^[1] Radiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy. ^[2] Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy. ^[3] Clinical Psychology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy. ^[4] Physical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy. ^[5] Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genova, Genova, Italy. ^[6] Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genova, Genova, Italy. ^[7] Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. ^[8] Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genova, Genova, Italy. Electronic address: claudiobruno@gaslini.org. ^[9]

关键词 LGMDR14 Limb girdle muscular dystrophy Muscle MRI POMT2 gene