NDUFA10 mutations cause complex i deficiency in a patient with Leigh disease

European Journal of Human Genetics

Volumn 19, Issue 3, 2011, Pages 270-274

  Hoefs, Saskia J G ^a   Van Spronsen, Francjan J ^b   Lenssen, Ellen W H ^a   Nijtmans, Leo G ^a   Rodenburg, Richard J ^a   Smeitink, Jan A M ^a   Van Den Heuvel, Lambert P ^a,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

complex I deficiency; Leigh syndrome; NDUFA10 gene

Indexed keywords

CARDIOVASCULAR AGENT; LACTIC ACID; MITOCHONDRIAL DNA; PYRUVATE DEHYDROGENASE COMPLEX; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; BASAL GANGLION; CARDIOPULMONARY ARREST; CASE REPORT; CELL ACTIVITY; CEREBROSPINAL FLUID LEVEL; COMPLEX I DEFICIENCY; DISEASE PREDISPOSITION; ENZYME ACTIVITY; FIBROBLAST CULTURE; GENE; GENE DISRUPTION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEART FAILURE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; HYPOGLYCEMIA; INFANT; KIDNEY FAILURE; LEIGH DISEASE; LIVER FAILURE; MALE; MULTIPLE ORGAN FAILURE; MUSCLE TISSUE; MUTATIONAL ANALYSIS; NDUFA10 GENE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PANCREAS INSUFFICIENCY; PRIORITY JOURNAL; RESUSCITATION; SKIN FIBROBLAST; SPLEEN DISEASE; START CODON; SUBSTANTIA NIGRA;

AMINO ACID SUBSTITUTION; CELL NUCLEUS; CELLS, CULTURED; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; HETEROZYGOTE; HUMANS; INFANT; LEIGH DISEASE; MALE; MITOCHONDRIA; MUTATION; NADH DEHYDROGENASE; OXIDATIVE PHOSPHORYLATION;

EID: 79951811473     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.204     Document Type: Article

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