Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series

Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series

BackgroundWe present the disease course and long-term follow-up of two patients who were phenotypically diagnosed with atypical Leber Hereditary Optic Neuropathy (LHON) 14 and 12 years ago, respectively, whereby whole exome sequencing revealed recently described recessive DNAJC30:c.152G>A 152...

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Bibliographic Details
Main Authors: Sanja Petrovic Pajic, Martina Jarc-Vidmar, Ana Fakin, Maja Sustar Habjan, Jelka Brecelj, Marija Volk, Ales Maver, Borut Peterlin, Marko Hawlina
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Neurology
Subjects:
arLHON
DNAJC30:c.152G>A gene
152 A>G (p.Tyr51Cys) pathogenic variant
visual acuity improvement
perimetry improvement
color vision improvement
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.1003046/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.1003046/full

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