DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be exclusively maternally inherited and broadened the genetic spectrum of Leigh syndrome, the most frequent paediatric mitochondrial...

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Autores principales: Stenton, Sarah L., Tesarova, Marketa, Sheremet, Natalia L., Catarino, Claudia B., Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R., Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K., Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N., Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166554/
https://www.ncbi.nlm.nih.gov/pubmed/35148383
http://dx.doi.org/10.1093/brain/awac052

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