首页> Cells> Lamin A/C Assembly Defects in <i>LMNA</i>-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.

Lamin A/C Assembly Defects in <i>LMNA</i>-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.

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第一作者： Anne T,Bertrand

第一单位： Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM UMRS974, F-75651 Paris CEDEX 13, France.

作者： Anne T,Bertrand ^[1] ; Astrid,Brull ^[1] ; Feriel,Azibani ^[1] ; Louise,Benarroch ^[1] ; Khadija,Chikhaoui ^[2] ; Colin L,Stewart ^[3] ; Ohad,Medalia ^[4] ; Rabah,Ben Yaou ^[5] ; Gisèle,Bonne ^[1]

作者单位： Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM UMRS974, F-75651 Paris CEDEX 13, France. ^[1] Neuromuscular Reference Center Nord-Est-Île de France, Institut de Myologie, G.H. Pitié Salpêtrière, F-75651 Paris CEDEX 13, France. ^[2] Institute of Medical Biology, Immunos 81 Biomedical Grove, Singapore 138648, Singapore. ^[3] Department of Biochemistry, University of Zurich, CH-8057 Zurich, Switzerland. ^[4] Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM UMRS974, F-75651 Paris CEDEX 13, France.;Neuromuscular Reference Center Nord-Est-Île de France, Institut de Myologie, G.H. Pitié Salpêtrière, F-75651 Paris CEDEX 13, France. ^[5]

关键词 Emery–Dreifuss muscular dystrophy LMNA LMNA-related congenital muscular dystrophy Lamin A/C

主题词动物(Animals);细胞, 培养的(Cells, Cultured);计算机模拟(Computer Simulation);数据库, 遗传学(Databases, Genetic);疾病模型, 动物(Disease Models, Animal);人类(Humans);核纤层蛋白A型(Lamin Type A);小鼠(Mice);肌纤维, 骨骼(Muscle Fibers, Skeletal);肌营养不良(Muscular Dystrophies);肌营养不良, Emery-Dreifuss型(Muscular Dystrophy, Emery-Dreifuss);突变(Mutation);成肌细胞(Myoblasts);表型(Phenotype);疾病严重程度指数(Severity of Illness Index)

DOI 10.3390/cells9040844

PMID 32244403

发布时间 2021-02-25

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Lamin A/C Assembly Defects in <i>LMNA</i>-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.

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Lamin A/C Assembly Defects in <i>LMNA</i>-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.

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