Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA

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作者： Karaoglu, Pakize ^[1] ; Quizon, Nicolas ^[2] ; Pergande, Matthias ^[3] ; Wang, Haicui ^[4] ; Polat, Ayse Ipek ^[5] ; Ersen, Ayca ^[6] ; Ozer, Erdener ; Willkomm, Lena ; Kurul, Semra Hiz ; Heredia, Raul ; Yis, Uluc ; Selcen, Duygu ; Cirak, Sebahattin

作者单位： Dokuz Eylul Univ, Sch Med, Dept Pathol, TR-35340 Izmir, Turkey ^[1] Mayo Clin, Dept Neurol, Rochester, MN USA ^[2] Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA ^[3] Univ Childrens Hosp Cologne, D-50931 Cologne, Germany ^[4] Dokuz Eylul Univ, Dept Pediat, Sch Med, Div Child Neurol, TR-35340 Izmir, Turkey ^[5] Ctr Mol Med, D-50931 Cologne, Germany ^[6]

关键词 Dropped head LMNA-related congenital muscular dystrophy Lamin A/C gene White matter

发布时间 2017-10-25

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