OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion

Chuanbin Suna Eye Center, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, ChinaView further author information

Xiaoyu Wub Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaView further author information

Hai-Xia Baia Eye Center, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, ChinaView further author information

Chenghui Wangb Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaView further author information

Zhe Liuc Department of Ophthalmology, Zhejiang Provincial People’s Hospital, Hangzhou, ChinaView further author information

Chenxi Yangb Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaView further author information

Yijun Lub Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaView further author information

Pingping Jiangb Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaCorrespondence[email protected]

https://orcid.org/0000-0002-4975-4861 View further author information

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OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion

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OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion

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