A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members.

Dulovic, Marija; Schäffer, Eva; Leypoldt, Frank; Balck, Alexander; Schaake, Susen; Hinrichs, Frauke; Kirchner, Henriette; Brüggemann, Norbert; Berg, Daniela; Lohmann, Katja

Dulovic, Marija; Schäffer, Eva; Leypoldt, Frank; Balck, Alexander; Schaake, Susen; Hinrichs, Frauke; Kirchner, Henriette; Brüggemann, Norbert; Berg, Daniela; Lohmann, Katja.

Afiliación

Dulovic M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Schäffer E; Department of Neurology, Christian-Albrechts University of Kiel, Kiel, Germany.
Leypoldt F; Department of Neurology, Christian-Albrechts University of Kiel, Kiel, Germany.
Balck A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Schaake S; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Hinrichs F; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Kirchner H; Department of Internal Medicine 1, University of Lübeck, Lübeck, Germany.
Brüggemann N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany.
Berg D; Department of Neurology, Christian-Albrechts University of Kiel, Kiel, Germany.
Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: katja.lohmann@neuro.uni-luebeck.de.

Parkinsonism Relat Disord ; 54: 116-118, 2018 09.

Article en En | MEDLINE | ID: mdl-29650490

Asunto(s)

ADN Mitocondrial/genética; Síndrome de Klinefelter/genética; Síndrome de Klinefelter/fisiopatología; Encefalomiopatías Mitocondriales/genética; Encefalomiopatías Mitocondriales/fisiopatología; Adulto; Pruebas Genéticas; Humanos; Síndrome de Klinefelter/diagnóstico por imagen; Masculino; Encefalomiopatías Mitocondriales/diagnóstico por imagen; Mutación; Linaje

Palabras clave

Genotype-driven treatment; Klinefelter syndrome; MERRF/Leigh-like syndrome; Mitochondrial DNA mutation; Neurogenetics

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Mitocondrial / Encefalomiopatías Mitocondriales / Síndrome de Klinefelter Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Asunto de la revista: NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Alemania

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