A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.

Lee, C Y; Petkova, M; Morales-Gonzalez, S; Gimber, N; Schmoranzer, J; Meisel, A; Böhmerle, W; Stenzel, W; Schuelke, M; Schwarz, J M

Lee, C Y; Petkova, M; Morales-Gonzalez, S; Gimber, N; Schmoranzer, J; Meisel, A; Böhmerle, W; Stenzel, W; Schuelke, M; Schwarz, J M.

Afiliação

Lee CY; NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Petkova M; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Morales-Gonzalez S; NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Gimber N; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Schmoranzer J; NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Meisel A; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Böhmerle W; Advanced Medical Bioimaging Core Facility (AMBIO), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Stenzel W; Advanced Medical Bioimaging Core Facility (AMBIO), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Schuelke M; Department of Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Schwarz JM; Department of Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Neuropathol Appl Neurobiol ; 46(6): 588-601, 2020 10.

Article em En | MEDLINE | ID: mdl-32267004

Assuntos

Proteínas de Ligação a DNA/genética; Mutação de Sentido Incorreto/genética; Síndromes Miastênicas Congênitas/genética; Fatores de Transcrição/genética; Adolescente; Feminino; Humanos; Imuno-Histoquímica; Proteínas Musculares/genética; Proteínas Musculares/metabolismo; Síndromes Miastênicas Congênitas/patologia; Junção Neuromuscular/patologia; Gêmeos Monozigóticos; Sequenciamento do Exoma

Palavras-chave

Duplin; macrocephalus; myasthenia; neuromuscular junction; overgrowth; superresolution microscopy

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Mutação de Sentido Incorreto / Síndromes Miastênicas Congênitas / Proteínas de Ligação a DNA Tipo de estudo: Risk_factors_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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