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Mitochondrial DNA
The Journal of DNA Mapping, Sequencing, and Analysis
Volume 24, 2013 - Issue 1
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Full Length Research Papers

Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency

Yan Yan MaDepartment of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, P.R. China
,
Tong Fei WuDepartment of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, P.R. China
,
Yu Peng LiuDepartment of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, P.R. China
,
Qiao WangDepartment of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, P.R. China
,
Xi Yuan LiDepartment of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, P.R. China
,
Yao ZhangDepartment of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, P.R. China
,
Jin Qing SongDepartment of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, P.R. China
,
Yu Jie WangDepartment of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, P.R. China
&
Yan Ling YangDepartment of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, P.R. ChinaCorrespondence[email protected]
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Pages 67-73 | Received 28 Mar 2012, Accepted 27 Jul 2012, Published online: 05 Sep 2012

Citations (8)

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Read on this site (2)

Liwen Wu, Jing Peng, Yuping Ma, Fang He, Xiaolu Deng, Guoli Wang, Yang Lifen & Fei Yin. (2016) Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. Mitochondrial DNA Part A 27:2, pages 1034-1037.
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Yan-Yan Ma, Tong-Fei Wu, Yu-Peng Liu, Qiao Wang, Xi-Yuan Li, Jin-Qing Song, Xiu-Yu Shi, Wei-Na Zhang, Meng Zhao, Ling-Yan Hu, Yan-Ling Yang & Li-Ping Zou. (2013) Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A>G mutation. Mitochondrial DNA 24:3, pages 297-302.
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Articles from other publishers (6)

Shaundra M Newstead & Josef Finsterer. (2022) Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3. Cureus.
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Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Kazuhiro R Nitta, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoshihito Kishita, Akira Ohtake, Yasushi Okazaki & Kei Murayama. (2022) Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A. Mitochondrion 63, pages 1-8.
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Tao-Ran Li, Qun Wang, Mao-Mao Liu & Rui-Juan Lv. (2019) A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene. Frontiers in Neurology 10.
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Yan-Yan Ma, Xi-Yuan Li, Zhi-Qin Li, Ji-Qing Song, Jing Hou, Jian-Hua Li, Li Sun, Jun Jiang & Yan-Ling Yang. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency. Medicine 97:32, pages e11606.
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Rebecca J. Levy, Purificación Gutierrez Ríos, Hasan O. Akman, Monica Sciacco, Darryl C. De Vivo & Salvatore DiMauro. (2013) Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3 . Journal of Child Neurology 29:10, pages NP105-NP110.
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Yan-Yan Ma, Tong-Fei Wu, Yu-Peng Liu, Qiao Wang, Xi-Yuan Li, Yuan Ding, Jin-Qing Song, Xiu-Yu Shi, Wei-Na Zhang, Meng Zhao, Ling-Yan Hu, Jun Ju, Zhi-Long Wang, Yan-Ling Yang & Li-Ping Zou. (2014) Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy. Brain and Development 36:5, pages 394-398.
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