DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy

BACKGROUND: Leber’s hereditary optic neuropathy (LHON) has been considered a prototypical mitochondriopathy and a textbook example for maternal inheritance linked to certain disease-causing variants in the mitochondrial genome. Recently, an autosomal recessive form of LHON (arLHON) has been describe...

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Detalles Bibliográficos
Autores principales: Kieninger, Sinja, Xiao, Ting, Weisschuh, Nicole, Kohl, Susanne, Rüther, Klaus, Kroisel, Peter Michael, Brockmann, Tobias, Knappe, Steffi, Kellner, Ulrich, Lagrèze, Wolf, Mazzola, Pascale, Haack, Tobias B, Wissinger, Bernd, Tonagel, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Vision Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554085/
https://www.ncbi.nlm.nih.gov/pubmed/35091433
http://dx.doi.org/10.1136/jmedgenet-2021-108235

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