Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene

Acta Paediatrica, International Journal of Paediatrics

Volumn 93, Issue 10, 2004, Pages 1312-1317

  Vesela, K ^a   Hansikova, H ^a   Tesarova, M ^a   Martasek, P ^a   Elleder, M ^a   Houstek, J ^b   Zeman, Jiri ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b INSTITUTE OF PHYSIOLOGY   (Czech Republic)

Author keywords

Cytochrome c oxidase; Mitochondrial disorders; SCO2

Indexed keywords

COPPER; PROSTAGLANDIN SYNTHASE;

ARTICLE; BRAIN; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; ENZYME SUBUNIT; FIBROBLAST; GENE; GENE MUTATION; GENE SEQUENCE; HEART; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; LIVER; MITOCHONDRIAL MEMBRANE; ONSET AGE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCO2 GENE; SKELETAL MUSCLE; SPECTROPHOTOMETRY; TWO DIMENSIONAL ELECTROPHORESIS;

BRAIN DISEASES; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CHILD; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; HUMANS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; PROTEINS;

EID: 4644221272     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035250410008761     Document Type: Article

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