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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261751/
https://www.ncbi.nlm.nih.gov/pubmed/32329585
http://dx.doi.org/10.1002/acn3.51025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261751/
https://www.ncbi.nlm.nih.gov/pubmed/32329585
http://dx.doi.org/10.1002/acn3.51025

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