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M. J. Löw

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Case report Open access Sep 2026

Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant

Background: A growing number of identified genes increasingly reveal genetic overlaps between neurodevelopmental disorders and combined dystonia syndromes. Case report: We report a 61-year-old man with a neurodevelopmental disorder, mild ataxic signs and generalized dystonia who had been misdiagnosed with cerebral pals...

M. J. Löw, Felix Bernsdorff, Christiane Weinrich et al. · 0 citations

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