Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease

Annals of Neurology

Volumn 54, Issue 4, 2003, Pages 473-478

  Kirby, Denise M ^a,b   Boneh, Avihu ^a,c   Chow, C W ^d   Ohtake, Akira ^e   Ryan, Michael T ^e   Thyagarajan, Dominic ^f   Thorburn, David R ^a,c  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b Genetic Health Services Victoria   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e LA TROBE UNIVERSITY   (Australia)

^f FLINDERS MEDICAL CENTRE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

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

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; FIBROBLAST; G13513A GENE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LEIGH DISEASE; MALE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; T12706C GENE;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; FIBROBLASTS; HUMANS; LEIGH DISEASE; LIVER; MALE; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; NADH, NADPH OXIDOREDUCTASES; POINT MUTATION;

EID: 0141535366     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10687     Document Type: Article

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