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"Case Report: Klinefelter Syndrome Presenting With Dystonic Tremor: Expanding the Phenotypic Spectrum and Therapeutic Option".
[BACKGROUND] Klinefelter syndrome (KS) is associated with tremor and dystonia, but the exact phenomenology and neurophysiology are not well described. [CASE REPORT] We present a case of a 51-year-old married male who presented with segment…
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Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.
[BACKGROUND] Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are…