Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing severe bilateral visual loss, typically in young adults. The disorder is commonly caused by one of three primary point mutations in mitochondrial DNA, but a number of other rare mutations causing or associated with the clini...

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Bibliografski detalji
Izdano u:Front Neurol
Glavni autori: Engvall, Martin, Kawasaki, Aki, Carelli, Valerio, Wibom, Rolf, Bruhn, Helene, Lesko, Nicole, Schober, Florian A., Wredenberg, Anna, Wedell, Anna, Träisk, Frank
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2021
Teme:
Neurology
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8027302/
https://ncbi.nlm.nih.gov/pubmed/33841319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2021.652590
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