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

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 peculiar torsional nys...

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Vydáno v:Ann Clin Transl Neurol
Hlavní autoři: Ronchi, Dario, Monfrini, Edoardo, Bonato, Sara, Mancinelli, Veronica, Cinnante, Claudia, Salani, Sabrina, Bordoni, Andreina, Ciscato, Patrizia, Fortunato, Francesco, Villa, Marianna, Di Fonzo, Alessio, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Brief Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7261751/
https://ncbi.nlm.nih.gov/pubmed/32329585
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51025
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