A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism.

Wenzel, Gregor R; Lohmann, Katja; Kühn, Andrea A

Wenzel, Gregor R; Lohmann, Katja; Kühn, Andrea A.

Wenzel GR; Department of Neurology, Charite-University Medicine Campus CVK, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address: gregor.wenzel@charite.de.
Lohmann K; Institute of Neurogenetics, University of Luebeck, Maria-Goeppert-Straße 1, 23562 Luebeck, Germany. Electronic address: katja.lohmann@neuro.uni-luebeck.de.
Kühn AA; Department of Neurology, Charite-University Medicine Campus CVK, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address: Andrea.Kuehn@charite.de.

Parkinsonism Relat Disord ; 37: 120-122, 2017 04.

Article en En | MEDLINE | ID: mdl-28214263

Asunto(s)

Trastornos Distónicos/genética; Mutación/genética; ATPasa Intercambiadora de Sodio-Potasio/genética; Adulto; Salud de la Familia; Humanos; Masculino

Palabras clave

ATP1A3; DYT12; De-novo-mutation; Haplotype-analysis; RDP

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ATPasa Intercambiadora de Sodio-Potasio / Trastornos Distónicos / Mutación Límite: Adult / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article

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