Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Nature Genetics

Volumn 23, Issue 3, 1999, Pages 333-337

  Papadopoulou, Lefkothea C ^a   Sue M, Carolyn ^b   Davidson, Mercy M ^b   Tanji, Kurenai ^b   Nishino, Ichizo ^b   Sadlock, James E ^b   Krishna, Sindu ^b   Walker, Winsome ^b   Selby, Jeanette ^b   Glerum, D Moira ^c   Van Coster, Rudy ^d   Lyon, Gilles ^d   Scalais, Emmanuel ^e   Lebel, Roger ^f   Kaplan, Paige ^g   Shanske, Sara ^b   De Vivo, Darryl C ^b   Bonilla, Eduardo ^b   Hirano, Michio ^b   DiMauro, Salvatore ^b   Schon, Eric A ^b   more..

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b Columbia University ^*  (United States)

^c UNIVERSITY OF ALBERTA   (Canada)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e Clinique Saint Vincent   (Belgium)

^f Genetics Services Inc   (United States)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ARTICLE; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; ENZYME SUBUNIT; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; MITOCHONDRIAL MEMBRANE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; YEAST;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARDIOMYOPATHIES; CARRIER PROTEINS; CLONING, MOLECULAR; CONSERVED SEQUENCE; CYSTEINE; CYTOCHROME-C OXIDASE DEFICIENCY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ISOENZYMES; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MYOCARDIUM; NEUROMUSCULAR DISEASES; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEINS; RNA, MESSENGER; SACCHAROMYCES CEREVISIAE PROTEINS;

MAMMALIA;

EID: 0032699506     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/15513     Document Type: Article

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