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Background: Mitochondrial disease can present as a movement disorder. Data on this entity's epidemiology, genetics, and underlying pathophysiology, however, is scarce.
Objective: The objective of this study was to describe the clinical, genetic, and volumetric imaging data from patients with mitochondrial disease who presented with movement disorders.
Methods: In this retrospective analysis of all...
Background:The X‐linked McLeod syndrome belongs to the group of neuroacanthocytosis syndromes and has a Huntington‐disease–like phenotype with a choreatic movement disorder, cognitive alterations, and psychiatric symptoms. Another neuroacanthocytosis syndrome, the autosomal recessive chorea‐acanthocytosis, has a similar presentation, but distinct clinical features, believed to be characteristic, such...
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