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) manifesting...

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Detalles Bibliográficos
Autores principales: Rákosníková, Tereza, Kelifová, Silvie, Štufková, Hana, Lokvencová, Kateřina, Lišková, Petra, Kousal, Bohdan, Honzík, Tomáš, Hansíková, Hana, Martínek, Václav, Tesařová, Markéta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233053/
https://www.ncbi.nlm.nih.gov/pubmed/37274791
http://dx.doi.org/10.3389/fgene.2023.1182288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233053/
https://www.ncbi.nlm.nih.gov/pubmed/37274791
http://dx.doi.org/10.3389/fgene.2023.1182288

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