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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Stenton SL, Tesarova M, Sheremet NL, Catarino CB, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H. Stenton SL, et al. Among authors: russo sn. Brain. 2022 Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052. Brain. 2022. PMID: 35148383 Free PMC article.