KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

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作者： Natera-de Benito, D. ^[1] ; Nascimento, A. ^[2] ; Abicht, A. ^[3] ; Ortez, C. ^[4] ; Jou, C. ^[5] ; Mueller, J. S. ; Evangelista, T. ; Toepf, A. ; Thompson, R. ; Jimenez-Mallebrera, C. ; Colomer, J. ; Lochmueller, H.

作者单位： Hosp St Joan de Deu, Dept Neuromuscular Dis, Barcelona, Spain ^[1] Hosp St Joan de Deu, Dept Pathol, Barcelona, Spain ^[2] Univ Munich, Friedrich Baur Inst, D-80336 Munich, Germany ^[3] Hosp Univ Fuenlabrada, Dept Pediat, Madrid, Spain ^[4] Newcastle Univ, Inst Med Genet, Ctr Neuromuscular Dis, John Walton Muscular Dystrophy Res Ctr,MRC ^[5]

关键词 KLHL40 Congenital myopathies Nemaline myopathies Neuromuscular junction Acetylcholinesterase inhibitors Congenital myasthenic syndromes

发布时间 2017-04-06

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