Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

American Journal of Medical Genetics

Volumn 98, Issue 3, 2001, Pages 235-243

  Chinnery, Patrick F ^a,c   Andrews, Richard M ^a   Turnbull, Douglass M ^b   Howell, Neil ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b University of Texas Medical Branch School of Medicine   (United States)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Genetic drift; Heteroplasmy; Leber hereditary optic neuropathy; Maternal inheritance; Mitochondrial disease; MtDNA; Optic atrophy

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; BLINDNESS; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE MUTATION; GENETIC DRIFT; GENETIC RISK; HEREDITARY OPTIC ATROPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PRIORITY JOURNAL; SEX DIFFERENCE;

DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; GENE EXPRESSION; GENE FREQUENCY; HUMANS; MALE; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; PHENOTYPE; POINT MUTATION; RETROSPECTIVE STUDIES;

EID: 0035931511     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010122)98:3<235::AID-AJMG1086>3.0.CO;2-O     Document Type: Article

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