Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects

Human Mutation

Volumn 15, Issue 2, 2000, Pages 123-134

  Loeffen, J L C M ^a   Smeitink, J A M ^a   Trijbels, J M F ^a   Janssen, A J M ^a   Triepels, R H ^a   Sengers, R C A ^a   Van Den Heuvel, L P ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cardiomyopathy; Childhood disease; Complex I; Encephalomyopathy; Lactic acidosis; Leigh Syndrome; Mitochondria; mtDNA; NADH:ubiquinone oxidoreductase; nDNA; OXPHOS disorders; Phenotype

Indexed keywords

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

CARDIOMYOPATHY; CLINICAL ARTICLE; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; FEMALE; GENE REARRANGEMENT; GENETIC ANALYSIS; HUMAN; LACTIC ACIDOSIS; LEIGH DISEASE; MALE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVIEW;

CHILD; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; MALE; METABOLISM, INBORN ERRORS; MUTATION; NADH, NADPH OXIDOREDUCTASES; PHENOTYPE;

EID: 0033967568     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P     Document Type: Review

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