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The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2

Ataxia with oculomotor apraxia type 2 (AOA2) is an inherited disorder caused by mutations within both alleles of the senataxin gene. First symptoms are usually recognized before the age of 30. Unlike several other autosomal recessive cerebellar ataxia syndromes, levels of alpha‐fetoprotein are nearl...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Mov Disord Clin Pract
Hauptverfasser: Brugger, Florian, Schüpbach, Michael, Koenig, Michel, Müri, René, Bohlhalter, Stephan, Kaelin‐Lang, Alain, Kamm, Christian P., Kägi, Georg
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2014
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6183195/
https://ncbi.nlm.nih.gov/pubmed/30363866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12021
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