Article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain : a journal of neurology - 3 Jun 2022
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
Abstract excerpt
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 disease. Herein, we characterize 28 so far unreported individuals from 26 families carrying a homozygous DNAJC30...
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