Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees

Shipeng XieDepartment of Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China;

Juanjuan ZhangInstitute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; ;School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Jiji SunInstitute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China;

Minglian ZhangDepartment of Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China;

Fuxin ZhaoSchool of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China; ;Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Qi-Ping WeiDepartment of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing, China;

Yi TongSchool of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Xiaoling LiuSchool of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Xiangtian ZhouSchool of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Pingping JiangInstitute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; ;Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China;

Yanchun JiInstitute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; Correspondence[email protected]

Min-Xin GuanDepartment of Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China; ;Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China; ;Division of Pathology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

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Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees

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Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees

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