Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Human Mutation

Volumn 21, Issue 6, 2003, Pages 582-586

  Bénit, Paule ^a   Beugnot, Réjane ^b   Chretien, Dominique ^a   Giurgea, Irina ^a   De Lonlay Debeney, Pascale ^a   Issartel, Jean Paul ^b   Corral Debrinski, Marisol ^d   Kerscher, Stefan ^c   Rustin, Pierre ^a   Rötig, Agnès ^a   Munnich, Arnold ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b CEA GRENOBLE   (France)

^c UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^d ECOLE NORMALE SUPÉRIEURE   (France)

Author keywords

Cardiomyopathy; Encephalopathy; Mutation analysis; NADH: ubiquinone oxidoreductase; NDUFV2

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA; NDUFV2 PROTEIN; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; RNA; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DISEASE; CARDIOMYOPATHY; CASE REPORT; CONTROLLED STUDY; ENZYME SUBUNIT; FIBROBLAST CULTURE; GENE MUTATION; HEART MUSCLE; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; MALE; MITOCHONDRIAL MEMBRANE; MUSCLE HYPOTONIA; NEWBORN; NUCLEOTIDE SEQUENCE; ONSET AGE; POLAROGRAPHY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; SKIN FIBROBLAST;

AGE OF ONSET; AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN DISEASES; CARDIOMYOPATHY, HYPERTROPHIC; CONSANGUINITY; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NADH, NADPH OXIDOREDUCTASES; PROTEIN SUBUNITS; RNA SPLICE SITES;

EID: 0037903268     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10225     Document Type: Article

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