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

Author:

Xie Shipeng1,Zhang Juanjuan23,Sun Jiji2,Zhang Minglian1,Zhao Fuxin34,Wei Qi-Ping5,Tong Yi3,Liu Xiaoling3,Zhou Xiangtian3,Jiang Pingping26,Ji Yanchun2,Guan Min-Xin167

Affiliation:

1. Department of Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China;

2. Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China;

3. School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China;

4. Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical University, Wenzhou, Zhejiang, China;

5. Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing, China;

6. Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China;

7. Division of Pathology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology

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