De Novo Mutations in the Mitochondrial ND3 Gene as a Cause of Infantile Mitochondrial Encephalopathy and Complex I Deficiency

Annals of Neurology

Volumn 55, Issue 1, 2004, Pages 58-64

  McFarland, Robert ^a   Kirby, Denise M ^b   Fowler, Kerry J ^b   Ohtake, Akira ^c   Ryan, Michael T ^c   Amor, David J ^b   Fletcher, Janice M ^d   Dixon, Joanne W ^e   Collins, Felicity A ^f   Turnbull, Douglass M ^a   Taylor, Robert W ^a   Thorburn, David R ^b,g  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c LA TROBE UNIVERSITY   (Australia)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e WELLINGTON HOSPITAL   (New Zealand)

^f SYDNEY CHILDREN'S HOSPITAL   (Australia)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA; ND3 PROTEIN, HOLOCHILUS; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINONE;

ARTICLE; CASE REPORT; CHILD; COMPLEX I DEFICIENCY; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON TRANSPORT; ENZYME ACTIVITY; ENZYMOLOGY; FEMALE; GENE; GENE MUTATION; GENETICS; HUMAN; HUMAN CELL; LEIGH DISEASE; LETHALITY; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRIAL ENCEPHALOPATHY; MUTATION; ND3 GENE; ND4 GENE; ND5 GENE; ND6 GENE; NEWBORN; NUCLEOTIDE SEQUENCE; NUTRITIONAL DEFICIENCY; PATHOLOGY; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PROTON TRANSPORT; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKELETAL MUSCLE; WESTERN BLOTTING;

BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; INFANT, NEWBORN; LEIGH DISEASE; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEINS;

EID: 9144222664     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10787     Document Type: Article

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