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

Volumn 100, Issue 4, 2010, Pages 379-384

  Zhou, Xiangtian ^a   Zhang, Hongxing ^b   Zhao, Fuxin ^a   Ji, Yanchun ^a   Tong, Yi ^a,c   Zhang, Juanjuan ^a   Zhang, Yu ^a   Yang, Li ^d   Qian, Yaping ^d   Lu, Fan ^a   Qu, Jia ^a   Guan, Min Xin ^a,d,e  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b Jinan Second People's Hospital   (China)

^c FUJIAN MEDICAL UNIVERSITY   (China)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^e UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Chinese; Leber's hereditary optic neuropathy; Mitochondrial DNA; Modifier genes; Mutation; Penetrance

Indexed keywords

MITOCHONDRIAL DNA; NADH DEHYDROGENASE SUBUNIT 4; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEREDITY; HIGH RISK POPULATION; HUMAN; INFORMED CONSENT; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MOLECULAR GENETICS; ONSET AGE; PEDIGREE; PENETRANCE; PHENOTYPE; PHYLOGENY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEX RATIO; VISUAL IMPAIRMENT; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; ENZYMOLOGY; ETHNIC GROUP; EYE FUNDUS; FAMILY; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; OPTIC ATROPHY, HEREDITARY, LEBER; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ETHNIC GROUPS; FAMILY; FEMALE; FUNDUS OCULI; HUMANS; MALE; MIDDLE AGED; MUTATION; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PENETRANCE; YOUNG ADULT;

EID: 77954660719     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.04.013     Document Type: Article

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