Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families

Mitochondrion

Volumn 18, Issue , 2014, Pages 18-26

  Zhang, Juanjuan ^a,b   Jiang, Pingping ^a   Jin, Xiaofen ^a   Liu, Xiaoling ^b   Zhang, Minglian ^c   Xie, Shipeng ^c   Gao, Min ^b   Zhang, Sai ^b   Sun, Yan Hong ^d   Zhu, Jinping ^b   Ji, Yanchun ^a   Wei, Qi Ping ^d   Tong, Yi ^b   Guan, Min Xin ^a,b  

^a Zhejiang University   (China)

^b WENZHOU MEDICAL UNIVERSITY   (China)

^c Hebei Provincial Eye Hospital   (China)

^d BEIJING UNIVERSITY OF CHINESE MEDICINE   (China)

Author keywords

Leber's hereditary optic neuropathy; Maternal inheritance; Mitochondria; Mutation; NADH:ubiquinone oxidoreductase

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); NADH DEHYDROGENASE SUBUNIT 1, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ADOLESCENT; ADULT; ARTICLE; CHINA; CONTROLLED STUDY; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; DNA POLYMORPHISM; DNA SEQUENCE; ENZYME ACTIVITY; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE; GENE MUTATION; GLYCOLYSIS; HAN CHINESE; HAPLOTYPE; HUMAN; HUMAN CELL; HYBRID CELL; LEBER HEREDITARY OPTIC NEUROPATHY; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL GENOME; MITOCHONDRION; MUTATIONAL ANALYSIS; ND1 GENE; ONSET AGE; OPHTHALMOLOGY; OXIDATIVE STRESS; PATHOPHYSIOLOGY; PEDIGREE; PHYLOGENY; PROTEIN DOMAIN; PROTEIN TERTIARY STRUCTURE; RELATIVE; RESPIRATORY FAILURE; VISUAL ACUITY; VISUAL IMPAIRMENT; ASIAN CONTINENTAL ANCESTRY GROUP; BIOSYNTHESIS; CASE REPORT; ETHNIC GROUP; FAMILY HEALTH; GENETIC SCREENING; GENETICS; METABOLISM; MIDDLE AGED; OPTIC ATROPHY, HEREDITARY, LEBER; YOUNG ADULT;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; ETHNIC GROUPS; FAMILY HEALTH; FEMALE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; YOUNG ADULT;

EID: 84907509067     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2014.08.008     Document Type: Article

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