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

Stenton, SL; Tesarova, M; Sheremet, NL; Catarino, C; Carelli, V; Ciara, E; Curry, K; Engvall, M; Fleming, LR; Freisinger, P; Iwanicka-Pronicka, K; Jurkiewicz, E; Klopstock, T; Koenig, MK; Kolarova, H; Kousal, B; Krylova, T; La Morgia, C; Noskova, L; Piekutowska-Abramczuk, D; Russo, SN; Stranecky, V; Tothova, I; Traisk, F; Prokisch, H

Prokisch, H (通讯作者)，Tech Univ Munich, Sch Med, Inst Human Genet, Germany Trogerstr 32, D-81675 Munich, Germany.

BRAIN, 2022; 145 (5): 1624

Abstract

The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assump......

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