Advanced search
Publication Cover
Current Eye Research Volume 17, 1998 - Issue 4
Submit an article Journal homepage
140
Views
94
CrossRef citations to date
0
Altmetric
Original Article

Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy

Dr. Yukihiko Mashima Department of Ophthalmology, Keio University School of Medicine, Tokyo, JapanCorrespondence[email protected]
,
Keiko Yamada Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
,
Masato Wakakura Department of Ophthalmology, Kitasato University, Kanagawa, Japan
,
Kazuteru Kigasawa Department of Ophthalmology, Tokai University, Kanagawa, Japan
,
Jun Kudoh Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan
,
Nobuyoshi Shimizu Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan
&
Yoshihisa Oguchi Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
 show all
Pages 403-408 | Received 25 Jul 1997, Accepted 07 Jan 1998, Published online: 02 Jul 2009

Citations (94)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Read on this site (11)

Yuanyuan Lyu, Man Xu, Jie Chen, YanChun Ji, Min-Xin Guan & Juanjuan Zhang. (2019) Frequency and spectrum of MT-TT variants associated with Leber’s hereditary optic neuropathy in a Chinese cohort of subjects. Mitochondrial DNA Part B 4:2, pages 2266-2280.
Read now
Xi Zhang, Shuaishuai Yu, Yunhai Tu & Wenjie Huang. (2016) Mitochondrial tRNAThr A15951G mutation may not be associated with Leber’s Hereditary Optic Neuropathy. Mitochondrial DNA Part A 27:4, pages 2323-2325.
Read now
Yoshiaki Shimada & Masayuki Horiguchi. (2016) Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes. Neuro-Ophthalmology 40:3, pages 125-129.
Read now
Divya Aggarwal, Valerio Carelli & Alfredo A Sadun. (2009) Genotype–phenotype correlations in mitochondrial optic neuropathies. Expert Review of Ophthalmology 4:4, pages 429-443.
Read now
Gavin Hudson, Patrick Yu-Wai-Man & Patrick F Chinnery. (2008) Leber hereditary optic neuropathy. Expert Opinion on Medical Diagnostics 2:7, pages 789-799.
Read now
Wei Wang, Shi-lei Cui, Ling Yang, Jun Shang, Wen-bin Wei & Xiao-jun Zhang. (2007) Clinical Features of Genetically Proved Leber Hereditary Optic Neuropathy in China. Neuro-Ophthalmology 31:5-6, pages 207-210.
Read now
. (2006) From the 16th International Neuro-ophthalmology Society (INOS) Congress 2006. Neuro-Ophthalmology 30:6, pages 1-174.
Read now
Yukihiko Mashima, Enrique Adan Sato & Yoshihisa Oguchi. (2001) Detection of fenestrated central scotoma by scanning laser ophthalmoscope microperimetry in a patient with Leber’s hereditary optic neuropathy after visual recovery. Neuro-Ophthalmology 25:3, pages 115-121.
Read now
Jeong-Min Hwang, Jong Jae Lee, Bong Leen Chang & Sung Sup Park. (2000) Visual prognosis of Leber’s hereditary optic neuropathy with 14484/ND6 mutation in Koreans. Neuro-Ophthalmology 24:3, pages 421-426.
Read now
Michael T. Yen & Byron L. Lam. (1999) Update on Hereditary Optic Neuropathy. Seminars in Ophthalmology 14:2, pages 74-80.
Read now
Keiko Yamada, Yoshihisa Oguchi, Yoshihiro Hotta, Makoto Nakamura, Yasushi Isashiki & Yukihiko Mashima. (1999) Multicenter study on the frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber’s hereditary optic neuropathy: comparison with American and British counterparts. Neuro-Ophthalmology 22:3, pages 187-193.
Read now

Articles from other publishers (83)

Hee Kyung Yang, Moon-Woo Seong, Ji Yeon Kim, Sung Sup Park & Jeong-Min Hwang. (2024) Poor visual prognosis of Asian patients with 3460 mitochondrial DNA mutation in Leber's hereditary optic neuropathy. Canadian Journal of Ophthalmology.
Crossref
Hee Kyung Yang, Moon-Woo Seong & Jeong-Min Hwang. (2024) Mitochondrial DNA mutations in Korean patients with Leber’s hereditary optic neuropathy. Scientific Reports 14:1.
Crossref
Yasuyuki Takai, Akiko Yamagami & Hitoshi Ishikawa. (2024) Leber’s hereditary optic neuropathyLeber遺伝性視神経症. Rinsho Shinkeigaku.
Crossref
Francesco Buonfiglio, Elsa Wilma Böhm, Norbert Pfeiffer & Adrian Gericke. (2023) Oxidative Stress: A Suitable Therapeutic Target for Optic Nerve Diseases?. Antioxidants 12:7, pages 1465.
Crossref
Paula I. Buonfiglio, Sebastián Menazzi, Liliana Francipane, Vanesa Lotersztein, Verónica Ferreiro, Ana Belén Elgoyhen & Viviana Dalamón. (2023) Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON). PLOS ONE 18:2, pages e0275703.
Crossref
Zhipeng Nie, Chenghui Wang, Jiarong Chen, Yanchun Ji, Hongxing Zhang, Fuxin Zhao, Xiangtian Zhou & Min-Xin Guan. (2023) Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber’s hereditary optic neuropathy. Human Molecular Genetics 32:2, pages 231-243.
Crossref
Eloise C. Watson, Ryan L. Davis, Shyamsundar Ravishankar, Joseph Copty, Sarah Kummerfeld & Carolyn M. Sue. (2023) Low disease risk and penetrance in Leber hereditary optic neuropathy. The American Journal of Human Genetics 110:1, pages 166-169.
Crossref
Rasa Liutkeviciene, Rasa Mikalauskaite, Greta Gedvilaite, Brigita Glebauskiene, Loresa Kriauciuniene & Reda Žemaitienė. (2022) Relative Leukocyte Telomere Length and Telomerase Complex Regulatory Markers Association with Leber’s Hereditary Optic Neuropathy. Medicina 58:9, pages 1240.
Crossref
Qingdan Xu, Ping Sun, Chaoyi Feng, Qian Chen, Xinghuai Sun, Yuhong Chen & Guohong Tian. (2022) Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report. Frontiers in Medicine 9.
Crossref
Ghada Al‐Kafaji, Maram A. Alharbi, Hasan Alkandari, Abdel Halim Salem & Moiz Bakhiet. (2022) Analysis of the entire mitochondrial genome reveals Leber’s hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis. Scientific Reports 12:1.
Crossref
Jie Shuai, Jian Shi, Ya Liang, Fangfang Ji, Luo Gu & Zhilan Yuan. (2021) Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber’s hereditary optic neuropathy. Irish Journal of Medical Science (1971 -) 191:2, pages 865-876.
Crossref
Vinny Wilson, Prabhjit Kaur, Sofia Singh, RadhikaP Ramachandran, Vislavath Jyothi, KarthikV Mahesh, Aastha Takkar, Giriraj Chandak & Ramandeep Singh. (2022) Clinical profile of patients with leber hereditary optic neuropathy (LHON): An ambispective study of North Indian Cohorts. Annals of Indian Academy of Neurology 25:8, pages 65.
Crossref
Rajan Kumar Jha, Chhavi Dawar, Qurratulain Hasan, Akhilesh Pujar, Gaurav Gupta, Venugopalan Y. Vishnu, Ramesh Kekunnaya & Kumarasamy Thangaraj. (2021) Mitochondrial Genetic Heterogeneity in Leber’s Hereditary Optic Neuropathy: Original Study with Meta-Analysis. Genes 12:9, pages 1300.
Crossref
Juanjuan Zhang, Yanchun Ji, Jie Chen, Man Xu, Guoping Wang, Xiaorui Ci, Bing Lin, Jun Q. Mo, Xiangtian Zhou & Min-Xin Guan. (2021) Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy. Investigative Opthalmology & Visual Science 62:9, pages 38.
Crossref
Rasa Liutkeviciene, Agne Sidaraite, Lina Kuliaviene, Brigita Glebauskiene, Neringa Jurkute, Lina Aluzaite-Baranauskiene, Arvydas Gelzinis & Reda Zemaitiene. (2021) A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy Due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review. Medicina 57:3, pages 202.
Crossref
JaneH Lock, NehaK Irani & NancyJ Newman. (2021) Neuro-ophthalmic manifestations of mitochondrial disorders and their management. Taiwan Journal of Ophthalmology 11:1, pages 39.
Crossref
Ye Jin Ahn, Yooyeon Park, Sun Young Shin, Hyojin Chae, Myungshin Kim & Shin Hae Park. (2020) Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber’s hereditary optic neuropathy. Graefe's Archive for Clinical and Experimental Ophthalmology 258:10, pages 2283-2290.
Crossref
Jialing Yu, Xiaoyang Liang, Yanchun Ji, Cheng Ai, Junxia Liu, Ling Zhu, Zhipeng Nie, Xiaofen Jin, Chenghui Wang, Juanjuan Zhang, Fuxin Zhao, Shuang Mei, Xiaoxu Zhao, Xiangtian Zhou, Minglian Zhang, Meng Wang, Taosheng Huang, Pingping Jiang & Min-Xin Guan. (2020) PRICKLE3 linked to ATPase biogenesis manifested Leber’s hereditary optic neuropathy. Journal of Clinical Investigation 130:9, pages 4935-4946.
Crossref
Shuo Yang, Chen Chen, Jia-Jia Yuan, Shuai-Shuai Wang, Xing Wan, Heng He, Si-Qi Ma & Bin Li. (2020) Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy. Journal of Neuro-Ophthalmology 40:1, pages 22-29.
Crossref
Elena Starikovskaya, Sofia Shalaurova, Stanislav Dryomov, Azhar Nazhmidenova, Natalia Volodko, Igor Bychkov, Ilia Mazunin & Rem Sukernik. (2019) Mitochondrial DNA Variation of Leber’s Hereditary Optic Neuropathy in Western Siberia. Cells 8:12, pages 1574.
Crossref
Shilei Cui, Hanqiu Jiang, Jingting Peng, Jiawei Wang & Xiaojun Zhang. (2019) Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation. Journal of Neuro-Ophthalmology 39:1, pages 56-59.
Crossref
Sunita Mohan, Uthra Satagopan, Soumittra Nagasamy, Sundaram Natarajan & Govindasamy Kumaramanickavel. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II 147 168 .
Andrew Schaefer, Albert Lim & Grainne Gorman. 2019. Diagnosis and Management of Mitochondrial Disorders. Diagnosis and Management of Mitochondrial Disorders 63 79 .
R. Liutkevičienė, A. Sidaraitė, I. Kozlovskaja, V. Ašmonienė & N. Jurkutė. (2018) Leber hereditary optic neuropathyPaveldima Lėberio optinė neuropatija. Neurologijos seminarai 22:4(78), pages 307-312.
Crossref
Juanjuan Zhang, Yanchun Ji, Xiaoling Liu, Jie Chen, Bibin Wang, Minglian Zhang & Min-Xin Guan. (2018) Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees. Mitochondrion 42, pages 84-91.
Crossref
Juanjuan Zhang, Yanchun Ji, Yuanyuan Lu, Runing Fu, Man Xu, Xiaoling Liu & Min-Xin Guan. (2018) Leber’s hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy. Human Molecular Genetics 27:11, pages 1999-2011.
Crossref
Yukihiko Mashima, Kazuteru Kigasawa, Kei Shinoda, Masato Wakakura & Yoshihisa Oguchi. (2017) Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation. BMC Ophthalmology 17:1.
Crossref
Bibhuti Ballav Saikia, Sushil Kumar Dubey, Mahesh Kumar Shanmugam & Periasamy Sundaresan. (2017) Whole mitochondrial genome analysis in South Indian patients with Leber's hereditary optic neuropathy. Mitochondrion 36, pages 21-28.
Crossref
Kaori Ueda, Yuki Morizane, Fumio Shiraga, Keigo Shikishima, Hitoshi Ishikawa, Masato Wakakura & Makoto Nakamura. (2017) Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan. Journal of Epidemiology 27:9, pages 447-450.
Crossref
Anushree Mishra, Saranya Devi, Rohit Saxena, Neerja Gupta, Madhulika Kabra & MadhumitaRoy Chowdhury. (2017) Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population. Indian Journal of Ophthalmology 65:11, pages 1156.
Crossref
丹 王. (2017) An Early Case of Leber’s Hereditary Optic Neuropathy to Diagnose and Treat. Hans Journal of Ophthalmology 06:02, pages 35-40.
Crossref
Lidia Carreño-Gago, Josep Gamez, Yolanda Cámara, Elena Alvarez de la Campa, Juan Sebastian Aller-Alvarez, Dulce Moncho, Maria Salvado, Alicia Galan, Xavier de la Cruz, Tomàs Pinós & Elena García-Arumí. (2017) Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT - ND1 gene associated with LHON syndrome. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1863:1, pages 182-187.
Crossref
Pingping Jiang, Min Liang, Chaofan Zhang, Xiaoxu Zhao, Qiufen He, Limei Cui, Xiaoling Liu, Yan-Hong Sun, Qun Fu, Yanchun Ji, Yidong Bai, Taosheng Huang & Min-Xin Guan. (2016) Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber’s hereditary optic neuropathy-associated mitochondrial DNA mutation. Human Molecular Genetics 25:16, pages 3613-3625.
Crossref
Juanjuan Zhang, Pingping Jiang, Xiaofen Jin, Xiaoling Liu, Minglian Zhang, Shipeng Xie, Min Gao, Sai Zhang, Yan-Hong Sun, Jinping Zhu, Yanchun Ji, Qi-Ping Wei, Yi Tong & Min-Xin Guan. (2014) Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families. Mitochondrion 18, pages 18-26.
Crossref
Jasna Jančić, Ivana Dejanović, Janko Samardžić, Saša Radovanović, Ana Pepić, Natalija Kosanović-Jaković, Mila Ćetković & Vladimir Kostić. (2014) Leber hereditary optic neuropathy in the population of Serbia. European Journal of Paediatric Neurology 18:3, pages 354-359.
Crossref
Yanchun Ji, Min Liang, Juanjuan Zhang, Minglian Zhang, Jinping Zhu, Xiangjuan Meng, Sai Zhang, Min Gao, Fuxin Zhao, Qi-Ping Wei, Pingping Jiang, Yi Tong, Xiaoling Liu, Jun Qin Mo & Min-Xin Guan. (2014) Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families. Journal of Human Genetics 59:3, pages 134-140.
Crossref
Juanjuan Zhang, Fuxin Zhao, Qun Fu, Min Liang, Yi Tong, Xiaoling Liu, Bei Lin, Hui Mi, Minglian Zhang, Qi-Ping Wei, Ling Xue, Pingping Jiang, Xiangtian Zhou, Jun Qin Mo, Taosheng Huang, Jia Qu & Min-Xin Guan. (2013) Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families. Mitochondrion 13:6, pages 772-781.
Crossref
Kiyoko Gocho, Sachiko Kikuchi, Takenori Kabuto, Shuhei Kameya, Kei Shinoda, Atsushi Mizota, Kunihiko Yamaki & Hiroshi Takahashi. (2013) High-Resolution En Face Images of Microcystic Macular Edema in Patients with Autosomal Dominant Optic Atrophy . BioMed Research International 2013, pages 1-12.
Crossref
B. Leo-Kottler & B. Wissinger. (2011) Lebersche OptikusneuropathieLeber’s hereditary optic neuropathy. Der Ophthalmologe 108:12, pages 1179-1194.
Crossref
Yaping Qian, Xiangtian Zhou, Min Liang, Jia Qu & Min-Xin Guan. (2011) The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation. Mitochondrion 11:6, pages 871-877.
Crossref
Yan-Chun JI, Xiao-Ling LIU, Fu-Xin ZHAO, Juan-Juan ZHANG, Yu ZHANG, Xiang-Tian ZHOU, Jia QU & Min-Xin GUAN. (2011) The mitochondrial <I>ND5</I> T12338C mutation may be associ-ated with Leber’s hereditary optic neuropathy in two Chinese fami-lies. Hereditas (Beijing) 33:4, pages 322-328.
Crossref
Xiao-Ling Liu, Xiangtian Zhou, Jian Zhou, Fuxin Zhao, Juanjuan Zhang, Chengwu Li, Yanchun Ji, Yu Zhang, Qi-Ping Wei, Yan-Hong Sun, Li Yang, Bing Lin, Yumin Yuan, Yingzi Li, Jia Qu & Min-Xin Guan. (2011) Leber's Hereditary Optic Neuropathy Is Associated with the T12338C Mutation in Mitochondrial ND5 Gene in Six Han Chinese Families. Ophthalmology 118:5, pages 978-985.
Crossref
Patrick Yu-Wai-Man, Philip G. Griffiths & Patrick F. Chinnery. (2011) Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies. Progress in Retinal and Eye Research 30:2, pages 81-114.
Crossref
Imen Chamkha, Emna Mkaouar-Rebai, Hajer Aloulou, Imen Chabchoub, Chamseddine Kifagi, Nourhene Fendri-Kriaa, Thouraya Kammoun, Mongia Hachicha & Faiza Fakhfakh. (2011) A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNAIle m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss. Biochemical and Biophysical Research Communications 404:1, pages 504-510.
Crossref
Minglian Zhang, Xiangtian Zhou, Chengwu Li, Fuxin Zhao, Juanjuan Zhang, Meixia Yuan, Yan-Hong Sun, Jingzheng Wang, Yi Tong, Min Liang, Li Yang, Wanshi Cai, Lifei Wang, Jia Qu & Min-Xin Guan. (2010) Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation. Molecular Genetics and Metabolism 101:2-3, pages 192-199.
Crossref
Juanjuan Zhang, Xiangtian Zhou, Jian Zhou, Chengwu Li, Fuxin Zhao, Yan Wang, Yanzi Meng, Jiying Wang, Meixia Yuan, Wanshi Cai, Yi Tong, Yan-Hong Sun, Li Yang, Jia Qu & Min-Xin Guan. (2010) Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families. Biochemical and Biophysical Research Communications 399:4, pages 647-653.
Crossref
Xiangtian Zhou, Hongxing Zhang, Fuxin Zhao, Yanchun Ji, Yi Tong, Juanjuan Zhang, Yu Zhang, Li Yang, Yaping Qian, Fan Lu, Jia Qu & Min-Xin Guan. (2010) Very high penetrance and occurrence of Leber’s hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation. Molecular Genetics and Metabolism 100:4, pages 379-384.
Crossref
J. Alexander Fraser, Valérie Biousse & Nancy J. Newman. (2010) The Neuro-ophthalmology of Mitochondrial Disease. Survey of Ophthalmology 55:4, pages 299-334.
Crossref
Yong-Mei ZHANG, Yan-Chun JI, Xiao-Ling LIU, Xiang-Tian ZHOU, Fu-Xin ZHAO, Yan-Hong SUN, Qi-Ping WEI, Juan-Juan ZHANG, Yan LIU, Jia QU & Min-Xin GUAN. (2010) Leber's hereditary optic neuropathy may be associated with the mitochondrial tRNA<SUP>Glu</SUP> A14693G mutation in three Chinese families. Hereditas (Beijing) 32:4, pages 353-359.
Crossref
Yi Tong, Yan-Hong Sun, Xiangtian Zhou, Fuxin Zhao, Yijian Mao, Qi-ping Wei, Li Yang, Jia Qu & Min-Xin Guan. (2010) Very low penetrance of Leber’s hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation. Molecular Genetics and Metabolism 99:4, pages 417-424.
Crossref
Yan LIU, Shu-Liu ZHUANG, Yi TONG, Jia QU, Xiang-Tian ZHOU, Fu-Xin ZHAO, Juan-Juan ZHANG, Yong-Mei ZHANG, Yu ZHANG & Min-Xin GUAN. (2010) Leber's hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial <I>ND1</I> T3866C mutation. Hereditas (Beijing) 32:2, pages 141-147.
Crossref
Jia Qu, Xiangtian Zhou, Fuxin Zhao, Xiaoling Liu, Minglian Zhang, Yan-Hong Sun, Min Liang, Meixia Yuan, Qi Liu, Yi Tong, Qi-Ping Wei, Li Yang & Min-Xin Guan. (2010) Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation. Biochimica et Biophysica Acta (BBA) - General Subjects 1800:3, pages 305-312.
Crossref
Fuxin Zhao, Minqiang Guan, Xiangtian Zhou, Meixia Yuan, Ming Liang, Qi Liu, Yan Liu, Yongmei Zhang, Li Yang, Yi Tong, Qi-Ping Wei, Yan-Hong Sun, Jia Qu & Min-Xin Guan. (2009) Leber’s hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation. Biochemical and Biophysical Research Communications 389:3, pages 466-472.
Crossref
Juhua Yang, Yihua Zhu, Yi Tong, Lu Chen, Lijuan Liu, Zhiqiang Zhang, Xiaoyan Wang, Dinggou Huang, Wentong Qiu, Shuliu Zhuang & Xu Ma. (2009) Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation. Biochemical and Biophysical Research Communications 386:1, pages 50-54.
Crossref
Juhua Yang, Yihua Zhu, Yi Tong, Zhiqiang Zhang, Lu Chen, Sanjie Chen, Zongfu Cao, Chunmei Liu, Jianhua Xu & Xu Ma. (2009) The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family. Mitochondrion 9:4, pages 273-278.
Crossref
Min Liang, Minqiang Guan, Fuxing Zhao, Xiangtian Zhou, Meixia Yuan, Yi Tong, Li Yang, Qi-Ping Wei, Yan-Hong Sun, Fan Lu, Jia Qu & Min-Xin Guan. (2009) Leber’s hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation. Biochemical and Biophysical Research Communications 383:3, pages 286-292.
Crossref
Jia Qu, Xiangtian Zhou, Juanjuan Zhang, Fuxin Zhao, Yan-Hong Sun, Yi Tong, Qi-Ping Wei, Wansi Cai, Li Yang, Constance E. West & Min-Xin Guan. (2009) Extremely Low Penetrance of Leber's Hereditary Optic Neuropathy in 8 Han Chinese Families Carrying the ND4 G11778A Mutation. Ophthalmology 116:3, pages 558-564.e3.
Crossref
Wanshi Cai, Qun Fu, Xiangtian Zhou, Jia Qu, Yi Tong & Min-Xin Guan. (2008) Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation. Journal of Genetics and Genomics 35:11, pages 649-655.
Crossref
Shirong Zhang, Lejin Wang, Yansheng Hao, Pengyun Wang, Ping Hao, Ke Yin, Qing K Wang & Mugen Liu. (2008) T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber’s hereditary optic neuropathy in a Chinese family. Mitochondrion 8:3, pages 205-210.
Crossref
Qi-Ping Wei, Xiangtian Zhou, Li Yang, Yan-Hong Sun, Jian Zhou, Guang Li, Robert Jiang, Fan Lu, Jia Qu & Min-Xin Guan. (2007) The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber’s hereditary optic neuropathy and hearing loss. Biochemical and Biophysical Research Communications 357:4, pages 910-916.
Crossref
Yi Tong, Yijian Mao, Xiangtian Zhou, Li Yang, Juanjuan Zhang, Wanshi Cai, Fuxing Zhao, Xinjian Wang, Fan Lu, Jia Qu & Min-Xin Guan. (2007) The mitochondrial tRNAGlu A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber’s hereditary optic neuropathy. Biochemical and Biophysical Research Communications 357:2, pages 524-530.
Crossref
Jia Qu, Ronghua Li, Xiangtian Zhou, Yi Tong, Li Yang, Jie Chen, Fuxing Zhao, Chunjie Lu, Yaping Qian, Fan Lu & Min-Xin Guan. (2007) Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family. Mitochondrion 7:1-2, pages 140-146.
Crossref
Xiaoyun Jia, Shiqiang Li, Xueshan Xiao, Xiangming Guo & Qingjiong Zhang. (2006) Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy. Journal of Human Genetics 51:10, pages 851-856.
Crossref
Yan-Hong Sun, Qi-Ping Wei, Xiangtian Zhou, Yaping Qian, Jian Zhou, Fan Lu, Jia Qu & Min-Xin Guan. (2006) Leber’s hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families. Biochemical and Biophysical Research Communications 347:1, pages 221-225.
Crossref
Ronghua Li, Jia Qu, Xiangtian Zhou, Yi Tong, Yongwu Hu, Yaping Qian, Fan Lu, Jun Qin Mo, Constance E. West & Min-Xin Guan. (2006) The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene 376:1, pages 79-86.
Crossref
Liesbeth Spruijt, Dinanda N. Kolbach, Rene F. de Coo, Astrid S. Plomp, Noel J. Bauer, Hubertus J. Smeets & Christine E.M. de Die-Smulders. (2006) Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy. American Journal of Ophthalmology 141:4, pages 676-676.e8.
Crossref
Yoko Inagaki, Yukihiko Mashima, Nobuo Fuse, Yuichiro Ohtake, Takuro Fujimaki & Takeo Fukuchi. (2006) Mitochondrial DNA Mutations with Leber's Hereditary Optic Neuropathy in Japanese Patients with Open-Angle Glaucoma. Japanese Journal of Ophthalmology 50:2, pages 128-134.
Crossref
Nopasak Phasukkijwatana, Wanicha L. Chuenkongkaew, Rungnapa Suphavilai, Bhoom Suktitipat, Sarinee Pingsuthiwong, Ngamkae Ruangvaravate, La-ongsri Atchaneeyasakul, Sukhuma Warrasak, Anuchit Poonyathalang, Thanyachai Sura & Patcharee Lertrit. (2006) The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees. Journal of Human Genetics 51:4, pages 298-304.
Crossref
Xiangtian Zhou, Qiping Wei, Li Yang, Yi Tong, Fuxin Zhao, Chunjie Lu, Yaping Qian, Yanghong Sun, Fan Lu, Jia Qu & Min-Xin Guan. (2006) Leber’s hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families. Biochemical and Biophysical Research Communications 340:1, pages 69-75.
Crossref
Yaping Qian, Xiangtian Zhou, Yongwu Hu, Yi Tong, Ronghua Li, Fan Lu, Huanming Yang, Jun Qin Mo, Jia Qu & Min-Xin Guan. (2005) Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber’s hereditary optic neuropathy. Biochemical and Biophysical Research Communications 332:2, pages 614-621.
Crossref
Jia Qu, Ronghua Li, Yi Tong, Yongwu Hu, Xiangtian Zhou, Yaping Qian, Fan Lu & Min-Xin Guan. (2005) Only male matrilineal relatives with Leber’s hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation. Biochemical and Biophysical Research Communications 328:4, pages 1139-1145.
Crossref
Hélio Afonso Ghizoni Teive, André Ribeiro Troiano, Salmo Raskin & Lineu César Werneck. (2004) Leber's hereditary optic neuropathy: case report and literature review. Sao Paulo Medical Journal 122:6, pages 276-279.
Crossref
Tomoki Nishioka, Augustinus Soemantri & Takafumi Ishida. (2004) mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers. Journal of Human Genetics 49:12, pages 701-705.
Crossref
Yukihiko Mashima, Makoto Nagano, Tomoyo Funayama, Qiang Zhang, Tohru Egashira, Jun Kudho, Nobuyoshi Shimizu & Yoshihisa Oguchi. (2004) Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology. Clinical Biochemistry 37:4, pages 268-276.
Crossref
Ian M MacDonald, Mai Tran & Maria A Musarella. (2004) Ocular genetics: current understanding. Survey of Ophthalmology 49:2, pages 159-196.
Crossref
Federico Sadun, Anna Maria De Negri, Valerio Carelli, Solange R. Salomao, Adriana Berezovsky, Rafael Andrade, Milton Moraes, Angelo Passos, Rubens Belfort, Arlon Bastos Da Rosa, Peter Quiros & Alfredo A. Sadun. (2004) Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. American Journal of Ophthalmology 137:2, pages 271-277.
Crossref
Tomoki Nishioka, Mamoru Tasaki, Augustinus Soemantri, Marbaniati Dyat, J. C. Susanto, Moedrik Tamam, Bambang Sudarmanto & Takafumi Ishida. (2003) Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia. Journal of Human Genetics 48:7, pages 385-389.
Crossref
P.Y.W. Man, P.G. Griffiths, D.T. Brown, N. Howell, D.M. Turnbull & P.F. Chinnery. (2003) The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England. The American Journal of Human Genetics 72:2, pages 333-339.
Crossref
Valerio Carelli, Lodovica Vergani, Barbara Bernazzi, Claudia Zampieron, Laura Bucchi, Maria Lucia Valentino, Chiara Rengo, Antonio Torroni & Andrea Martinuzzi. (2002) Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1588:1, pages 7-14.
Crossref
Chi Pui Pang & Dennis Shun Chiu Lam. (2002) Differential occurrence of mutations causative of eye diseases in the Chinese population. Human Mutation 19:3, pages 189-208.
Crossref
Valerio Carelli. 2002. Mitochondrial Disorders in Neurology 2. Mitochondrial Disorders in Neurology 2 115 142 .
Isabel Aguilera, José-Raúl Garcı́a-Lozano, Alfredo Muñoz, Joaquı́n Arenas, Yolanda Campos, Isidoro Chinchón, Antonio-Núñez Roldán & Juan Bautista. (2001) Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease. Journal of the Neurological Sciences 192:1-2, pages 81-84.
Crossref
Patrick F. Chinnery, Richard M. Andrews, Douglass M. Turnbull & Neil Howell. (2001) Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?. American Journal of Medical Genetics 98:3, pages 235-243.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.