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.

Bertrand, Anne T; Brull, Astrid; Azibani, Feriel; Benarroch, Louise; Chikhaoui, Khadija; Stewart, Colin L; Medalia, Ohad; Ben Yaou, Rabah; Bonne, Gisèle

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

Bertrand, Anne T; Brull, Astrid; Azibani, Feriel; Benarroch, Louise; Chikhaoui, Khadija; Stewart, Colin L; Medalia, Ohad; Ben Yaou, Rabah; Bonne, Gisèle.

Afiliação

Bertrand AT; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM UMRS974, F-75651 Paris CEDEX 13, France.
Brull A; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM UMRS974, F-75651 Paris CEDEX 13, France.
Azibani F; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM UMRS974, F-75651 Paris CEDEX 13, France.
Benarroch L; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM UMRS974, F-75651 Paris CEDEX 13, France.
Chikhaoui K; Neuromuscular Reference Center Nord-Est-Île de France, Institut de Myologie, G.H. Pitié Salpêtrière, F-75651 Paris CEDEX 13, France.
Stewart CL; Institute of Medical Biology, Immunos 81 Biomedical Grove, Singapore 138648, Singapore.
Medalia O; Department of Biochemistry, University of Zurich, CH-8057 Zurich, Switzerland.
Ben Yaou R; Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM UMRS974, F-75651 Paris CEDEX 13, France.
Bonne G; Neuromuscular Reference Center Nord-Est-Île de France, Institut de Myologie, G.H. Pitié Salpêtrière, F-75651 Paris CEDEX 13, France.

Cells ; 9(4)2020 03 31.

Article em En | MEDLINE | ID: mdl-32244403

Assuntos

Lamina Tipo A/deficiência; Lamina Tipo A/metabolismo; Distrofias Musculares/patologia; Distrofia Muscular de Emery-Dreifuss/patologia; Índice de Gravidade de Doença; Animais; Células Cultivadas; Simulação por Computador; Bases de Dados Genéticas; Modelos Animais de Doenças; Humanos; Lamina Tipo A/genética; Camundongos; Fibras Musculares Esqueléticas/metabolismo; Distrofias Musculares/genética; Distrofia Muscular de Emery-Dreifuss/genética; Mutação/genética; Mioblastos/metabolismo; Fenótipo

Palavras-chave

EmeryDreifuss muscular dystrophy; LMNA; LMNA-related congenital muscular dystrophy; Lamin A/C

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Índice de Gravidade de Doença / Distrofia Muscular de Emery-Dreifuss / Lamina Tipo A / Distrofias Musculares Limite: Animals / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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