Clinical, genetic, and biochemical characterization of a leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations

American Journal of Medical Genetics

Volumn 104, Issue 4, 2001, Pages 331-338

  Brown, Michael D ^a   Allen, Jon C ^a   Van Stavern, Gregory P ^a   Newman, Nancy J ^a   Wallace, Douglas C ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Leber hereditary optic neuropathy; Mitochondrial DNA; Mutations; Ophthalmologic disease; Oxidative phosphorylation

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CASE REPORT; CENTRAL SCOTOMA; CONTROLLED STUDY; DNA DETERMINATION; ENZYME ACTIVITY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENOTYPE; HEREDITARY OPTIC ATROPHY; HUMAN; HUMAN CELL; LYMPHOBLAST; MITOCHONDRIAL RESPIRATION; NEUROOPHTHALMOLOGY; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL DISORDER;

CELL LINE; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MITOCHONDRIA; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; OXIDATIVE PHOSPHORYLATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0035892808     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20011215)104:4<331::AID-AJMG10054>3.0.CO;2-W     Document Type: Article

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