A Japanese Case of Leber’s Hereditary Optic Neuropathy with the m.13051G>A Pathogenic Variant-Reference-Cited by-同舟云学术

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A Japanese Case of Leber’s Hereditary Optic Neuropathy with the m.13051G>A Pathogenic Variant

Published:2023-10-31 Issue: Volume: Page:1-5
ISSN:0165-8107
Container-title:Neuro-Ophthalmology
language:en
Short-container-title:Neuro-Ophthalmology

Author:

Takai Yasuyuki¹^ORCID,Iwasa Mayumi¹,Yamagami Akiko¹,Inoue Kenji¹,Yasumoto Ryoma²,Ishikawa Hitoshi³,Wakakura Masato¹

Affiliation:

1. Department of ophthalmology, Inouye Eye Hospital, Tokyo, Japan

2. Department of Clinical Laboratory, Kitasato University Hospital, Kanagawa, Japan

3. Department of Orthoptics and Visual Science, School of Allied Health Sciences, Kitazato University, Kanagawa, Japan

Funder

no funding

Publisher

Informa UK Limited

Subject

Neurology (clinical),Ophthalmology

Link

https://www.tandfonline.com/doi/pdf/10.1080/01658107.2023.2273480

Reference6 articles.

1. Designation criteria for leber’s hereditary optic neuropathy;Nakamura M;Nihon Ganka Gakkai Zasshi,2015

2. Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel

3. Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy

4. The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

5. Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051G>A mtDNA Mutation

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