Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40â¯years.

Kübler, Dorothee; Borngräber, Friederike; Lohmann, Katja; Kühn, Andrea A

Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40â¯years.

Kübler, Dorothee; Borngräber, Friederike; Lohmann, Katja; Kühn, Andrea A.

Afiliação

Kübler D; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Movement Disorders Section, Campus Virchow Klinikum and Campus Mitte, Department of Neurology, Charitéplatz 1, 10119 Berlin, Germany. Electronic address
Borngräber F; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Movement Disorders Section, Campus Virchow Klinikum and Campus Mitte, Department of Neurology, Charitéplatz 1, 10119 Berlin, Germany.
Lohmann K; Institute of Neurogenetics, University of Lübeck, Maria-Goeppert-Straße 1, 23562 Lübeck, Germany.
Kühn AA; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Movement Disorders Section, Campus Virchow Klinikum and Campus Mitte, Department of Neurology, Charitéplatz 1, 10119 Berlin, Germany.

J Clin Neurosci ; 50: 131-132, 2018 Apr.

Article em En | MEDLINE | ID: mdl-29429788

Assuntos

Distúrbios Distônicos/diagnóstico; Distúrbios Distônicos/genética; Distúrbios Distônicos/psicologia; Sarcoglicanas/genética; Adulto; Diagnóstico Tardio; Depressão/etiologia; Mutação da Fase de Leitura; Humanos; Masculino; Comportamento Obsessivo/etiologia; Transtorno de Pânico/etiologia

Palavras-chave

DYT11; Myoclonus dystonia; Novel mutation; Psychiatric symptoms; SGCE gene

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Sarcoglicanas Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Humans / Male Idioma: En Revista: J Clin Neurosci Ano de publicação: 2018 Tipo de documento: Article

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