CareLit · DOI-Nachweis · Aktuelle Neurologie
THAP1 (DYT6) mutations are a frequent cause of generalized dystonia with prominent spasmodic dysphonia
DOI 10.1055/s-0029-1238335
Bibliografische Angaben
Nachweis in CareLit
Autor:innenK Lohmann, SA Schneider, A Djarmati, S Winkler, H Pawlack, J Hagenah, N Brüggemann, S Zittel, T Fuchs, A Rakovic, A Schmidt, HC Jabusch, R Wilcox, VS Kostic, HR Siebner, E Altenmüller, A Münchau, LJ Ozelius, C Klein
ZeitschriftAktuelle Neurologie
Ausgabe10/2009
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Objective: To evaluate the mutational spectrum of THAP1 in different types of dystonia. Background: DYT6 is a form of primary early-onset torsion dystonia. Unlike in DYT1 dystonia, symptoms seem to frequently involve the cranio-cervical region. Recently, two mutations in the THAP1 gene have been identified. Patients and methods: We comprehensively screened THAP1 by sequence analysis and quantitative real-time PCR in…
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Zitierempfehlung
K Lohmann, SA Schneider, A Djarmati, S Winkler, H Pawlack, J Hagenah, N Brüggemann, S Zittel, T Fuchs, A Rakovic, A Schmidt, HC Jabusch, R Wilcox, VS Kostic, HR Siebner, E Altenmüller, A Münchau, LJ Ozelius, C Klein (2009) THAP1 (DYT6) mutations are a frequent cause of generalized dystonia with prominent spasmodic dysphonia. Aktuelle Neurologie (10). https://doi.org/10.1055/s-0029-1238335
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