Articles with "dystonia ataxia" as a keyword



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Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

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Published in 2020 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51025

Abstract: Biallelic mutations in ECHS1, encoding the mitochondrial enoyl‐CoA hydratase, have been associated with mitochondrial encephalopathies with basal ganglia involvement. Here, we describe a novel clinical presentation consisting of dystonia‐ataxia syndrome with hearing loss and a… read more here.

Keywords: nystagmus caused; ataxia syndrome; dystonia ataxia; torsional nystagmus ... See more keywords