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