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 ◽

10.1016/j.mito.2011.06.006 ◽

2011 ◽

Vol 11 (6) ◽

pp. 871-877 ◽

Author(s):

Yaping Qian ◽

Xiangtian Zhou ◽

Min Liang ◽

Jia Qu ◽

Min-Xin Guan

Keyword(s):

Optic Neuropathy ◽

Complex Iii ◽

Chinese Family ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

High Penetrance ◽

G11778a Mutation ◽

Hereditary Optic Neuropathy

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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 ◽

10.1016/j.bbrc.2005.01.062 ◽

2005 ◽

Vol 328 (4) ◽

pp. 1139-1145 ◽

Author(s):

Jia Qu ◽

Ronghua Li ◽

Yi Tong ◽

Yongwu Hu ◽

Xiangtian Zhou ◽

...

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Chinese Family ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

G11778a Mutation ◽

Hereditary Optic Neuropathy

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Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber’s hereditary optic neuropathy

Biochemical and Biophysical Research Communications ◽

10.1016/j.bbrc.2008.08.128 ◽

2008 ◽

Vol 376 (1) ◽

pp. 221-224 ◽

Author(s):

A-Mei Zhang ◽

Xiaoyun Jia ◽

Yong-Gang Yao ◽

Qingjiong Zhang

Keyword(s):

Optic Neuropathy ◽

Chinese Family ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

High Penetrance ◽

Hereditary Optic Neuropathy

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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 ◽

10.1016/j.ymgme.2010.04.013 ◽

2010 ◽

Vol 100 (4) ◽

pp. 379-384 ◽

Author(s):

Xiangtian Zhou ◽

Hongxing Zhang ◽

Fuxin Zhao ◽

Yanchun Ji ◽

Yi Tong ◽

...

Keyword(s):

Optic Neuropathy ◽

Han Chinese ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

High Penetrance ◽

Very High ◽

G11778a Mutation ◽

Hereditary Optic Neuropathy

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T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber’s hereditary optic neuropathy in a Chinese family

Mitochondrion ◽

10.1016/j.mito.2008.02.003 ◽

2008 ◽

Vol 8 (3) ◽

pp. 205-210 ◽

Author(s):

Shirong Zhang ◽

Lejin Wang ◽

Yansheng Hao ◽

Pengyun Wang ◽

Ping Hao ◽

...

Keyword(s):

Optic Neuropathy ◽

Chinese Family ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Hereditary Optic Neuropathy

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Clinical phenotype and the G11778A mutation of mitochondrial DNA in patients with Leber’s hereditary optic neuropathy in Taiwan

Neuro-Ophthalmology ◽

10.1076/noph.26.4.207.15871 ◽

2001 ◽

Vol 26 (4) ◽

pp. 207-216

Author(s):

Chun-Che Chu ◽

Chin-Chang Huang ◽

Ling-Yuh Kao ◽

Hung-Chou Kuo ◽

Tzu-Ning Yu ◽

...

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Clinical Phenotype ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

G11778a Mutation ◽

Hereditary Optic Neuropathy

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Foveal pit morphological changes in asymptomatic carriers of the G11778A mutation with Leber’s hereditary optic neuropathy

International Journal of Ophthalmology ◽

10.18240/ijo.2020.05.11 ◽

2020 ◽

Vol 13 (5) ◽

pp. 766-772

Author(s):

Xin-Ting Liu

Keyword(s):

Optic Neuropathy ◽

Morphological Changes ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Asymptomatic Carriers ◽

G11778a Mutation ◽

Hereditary Optic Neuropathy

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Phylogenetic Assessment of the Mitochondrial DNA Displacement Loop Haplotype in Japanese Patients with Leber’s Hereditary Optic Neuropathy Harboring the Mitochondrial DNA G11778A Mutation

Ophthalmic Research ◽

10.1159/000071174 ◽

2003 ◽

Vol 35 (4) ◽

pp. 224-231 ◽

Author(s):

Yasushi Isashiki ◽

Shozo Sonoda ◽

Shuji Izumo ◽

Taiji Sakamoto ◽

Hiroshi Tachikui ◽

...

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Japanese Patients ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

G11778a Mutation ◽

Hereditary Optic Neuropathy

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Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation

Journal of Genetics and Genomics ◽

10.1016/s1673-8527(08)60086-7 ◽

2008 ◽

Vol 35 (11) ◽

pp. 649-655 ◽

Author(s):

Wanshi Cai ◽

Qun Fu ◽

Xiangtian Zhou ◽

Jia Qu ◽

Yi Tong ◽

...

Keyword(s):

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Phenotypic Manifestation ◽

G11778a Mutation ◽

Hereditary Optic Neuropathy

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Extremely Low Penetrance of Leber's Hereditary Optic Neuropathy in 8 Han Chinese Families Carrying the ND4 G11778A Mutation

Ophthalmology ◽

10.1016/j.ophtha.2008.10.022 ◽

2009 ◽

Vol 116 (3) ◽

pp. 558-564.e3 ◽

Author(s):

Jia Qu ◽

Xiangtian Zhou ◽

Juanjuan Zhang ◽

Fuxin Zhao ◽

Yan-Hong Sun ◽

...

Keyword(s):

Optic Neuropathy ◽

Han Chinese ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Chinese Families ◽

G11778a Mutation ◽

Hereditary Optic Neuropathy

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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 ◽

10.1016/j.bbrc.2007.04.025 ◽

2007 ◽

Vol 357 (4) ◽

pp. 910-916 ◽

Author(s):

Qi-Ping Wei ◽

Xiangtian Zhou ◽

Li Yang ◽

Yan-Hong Sun ◽

Jian Zhou ◽

...

Keyword(s):

Hearing Loss ◽

Optic Neuropathy ◽

Chinese Family ◽

12S Rrna ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Hereditary Optic Neuropathy

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