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

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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Bibliographic Details
Main Authors: Martin Engvall, Aki Kawasaki, Valerio Carelli, Rolf Wibom, Helene Bruhn, Nicole Lesko, Florian A. Schober, Anna Wredenberg, Anna Wedell, Frank Träisk
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Neurology
Subjects:
leber hereditary optic neuropathy
optic neuropathy
MT-ND5
mitochondrial DNA
case report
complex 1
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.652590/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.652590/full

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