Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals

BackgroundLeber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to be exclusively maternally inherited due to mutati...

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Bibliographic Details
Main Authors: Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F. Chinnery, Catarina Olimpio, Rita Horvath
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Neurology
Subjects:
Leber hereditary optic neuropathy (LHON)
mitochondrial LHON (mtLHON)
autosomal recessive LHON (arLHON)
DNA-J heat shock protein family (Hsp40) member C30 (DNAJC30)
c.152A>G (p.Tyr51Cys)
recessive optic neuropathy
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1292320/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1292320/full

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