Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
Sign Up to like & getrecommendations! 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