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 as isolat...

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Detalles Bibliográficos
Autores principales: Sun, Chuan-bin, Bai, Hai-xia, Xu, Dan-ni, Xiao, Qing, Liu, Zhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7970004/
https://www.ncbi.nlm.nih.gov/pubmed/33746872
http://dx.doi.org/10.3389/fneur.2021.601307

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