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PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.

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第一作者： Toshitaka,Kawarai

第一单位： Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan. Electronic address: tkawarai@tokushima-u.ac.jp.

作者： Toshitaka,Kawarai ^[1] ; Hiroki,Yamazaki ^[2] ; Ryosuke,Miyamoto ^[2] ; Naoko,Takamatsu ^[2] ; Atsuko,Mori ^[2] ; Yusuke,Osaki ^[2] ; Antonio,Orlacchio ^[3] ; Hiroyuki,Nodera ^[2] ; Akihiro,Hashiguchi ^[4] ; Yujiro,Higuchi ^[4] ; Akiko,Yoshimura ^[4] ; Hiroshi,Takashima ^[4] ; Ryuji,Kaji ^[2]

作者单位： Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan. Electronic address: tkawarai@tokushima-u.ac.jp. ^[1] Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan. ^[2] Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Rome, Italy; Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy. ^[3] Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. ^[4]

关键词 Gene dose effect Overlapped pathophysiology PMP22 protein with in-frame deletion PMP22-related disease Splice site acceptor variant