Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation-Reference-Cited by-同舟云学术

Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation

Published:2021-02-05 Issue:3 Volume:42 Page:304-311
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Oishi Noriko¹,Kubota Daiki¹,Nakamoto Kenji²,Takeda Yukito¹,Hayashi Mika¹,Gocho Kiyoko¹³,Yamaki Kunihiko¹,Igarashi Tsutomu²,Takahashi Hiroshi²,Kameya Shuhei¹

Affiliation:

1. Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Inzai, Chiba, Japan

2. Department of Ophthalmology, Nippon Medical School, Tokyo, Japan

3. Clinical Investigation Center 1423, Inserm and Quinze-Vingts National Ophthalmology Hospital, Paris, France

Funder

MEXT KAKENHI

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1881978

Reference34 articles.

1. Quantitative mitochondrial DNA copy number determination using droplet digital PCR with single-cell resolution

2. Heteroplasmy and Copy Number in the Common m.3243A>G Mutation—A Post-Mortem Genotype–Phenotype Analysis

3. Mitochondrial Energetics and Therapeutics

4. Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism

5. Mitochondrial DNA mutations in human disease

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