Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing

Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing

Objective: Mitochondrial 13513G>A mutation presenting as isolated Leber's hereditary optic neuropathy (LHON) without any extraocular pathology has not been reported in literature. We herein evaluate the clinical characteristics and heteroplasmy of m.13513G>A mutation manifesting a...

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Bibliographic Details
Main Authors: Chuan-bin Sun, Hai-xia Bai, Dan-ni Xu, Qing Xiao, Zhe Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Neurology
Subjects:
Leber's hereditary optic neuropathy
mitochondrial DNA
gene mutation
m13513G>A
optic atrophy
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.601307/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.601307/full

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