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Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.

Parkinsonism & related disorders - 1 Oct 2016

Zech Michael, Jochim Angela, Boesch Sylvia, Weber Sandrina, Meindl Tobias, Peters Annette, Gieger Christian, Mueller Joerg, Messner Michael, Ceballos-Baumann Andres, Poewe Werner, Haslinger Bernhard, Winkelmann Juliane

Abstract excerpt

BACKGROUND: An increasing number of rare, functionally relevant non-c.907_909delGAG (non-ΔGAG) variants in TOR1A have been recognized, associated with phenotypic expressions different from classic DYT1 childhood-onset generalized dystonia. Only recently, DYT1 genotype-phenotype correlations have been proposed, awaiting further elucidation in independent cohorts. METHODS: We screened the entire coding sequence and...

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PMID: 27477622
DOI: 10.1016/j.parkreldis.2016.07.013

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