A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.

Lange, Lara M; Tunc, Sinem; Tennstedt, Stephanie; Münchau, Alexander; Klein, Christine; Assmann, Birgit; Lohmann, Katja

Lange, Lara M; Tunc, Sinem; Tennstedt, Stephanie; Münchau, Alexander; Klein, Christine; Assmann, Birgit; Lohmann, Katja.

Afiliação

Lange LM; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Tunc S; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Tennstedt S; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany.
Münchau A; Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Assmann B; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany.
Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Mov Disord ; 32(10): 1495-1497, 2017 10.

Article em En | MEDLINE | ID: mdl-28921672

Assuntos

Distonia/genética; Histona-Lisina N-Metiltransferase/genética; Deleção de Sequência/genética; Criança; Análise Mutacional de DNA; Feminino; Humanos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Histona-Lisina N-Metiltransferase / Deleção de Sequência / Distonia Limite: Child / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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