Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

Leber hereditary optic neuropathy is a primary mitochondrial disease characterized by acute visual loss due to the degeneration of retinal ganglion cells. In this study, we describe a patient carrying a rare missense heteroplasmic variant in MT-ND1, NC_012920.1:m.4135T>C (p.Tyr277His) manifes...

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Bibliographic Details
Main Authors: Tereza Rákosníková, Silvie Kelifová, Hana Štufková, Kateřina Lokvencová, Petra Lišková, Bohdan Kousal, Tomáš Honzík, Hana Hansíková, Václav Martínek, Markéta Tesařová
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Genetics
Subjects:
mitochondria
optic neuropathy
mtDNA
complex I
supercomplexes
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1182288/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1182288/full

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