Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene

European Journal of Pediatrics

Volumn 167, Issue 7, 2008, Pages 771-776

  Van Hove, Johan L K ^a,d   Freehauf, Cynthia ^a   Miyamoto, Shelley ^a   Vladutiu, Georgirene D ^b   Pancrudo, Jacklyn ^c   Bonilla, Eduardo ^c   Lovell, Mark A ^a   Mierau, Gary W ^a   Thomas, Janet A ^a   Shanske, Sara ^c  

^a UNIVERSITY OF COLORADO   (United States)

^b UNIVERSITY AT BUFFALO   (United States)

^c Columbia College of Physicians and Surgeons ^*  (United States)

^d UNIVERSITY OF COLORADO   (United States)

Author keywords

Arrhythmias; Cardiomyopathy; Heteroplasmy; Mitochondrial respiratory chain; tRNA glutamic acid

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C OXIDASE; GLUTAMIC ACID; LACTIC ACID; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE; TRANSFER RNA;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; DEATH; DIETARY INTAKE; DISEASE SEVERITY; DNA SEQUENCE; ELECTROCARDIOGRAM; FEMALE; GENE MUTATION; HEART ARRHYTHMIA; HEART EJECTION FRACTION; HEART FAILURE; HEART FUNCTION; HEART LEFT VENTRICLE FUNCTION; HEART RIGHT VENTRICLE FUNCTION; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE TACHYCARDIA; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; LACTATE BLOOD LEVEL; MATERNAL DIABETES MELLITUS; MITOCHONDRIAL GENE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NASOGASTRIC TUBE; NEWBORN; OXYGEN THERAPY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; STOMACH TUBE; TRICUSPID VALVE REGURGITATION;

CARDIOMYOPATHIES; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MITOCHONDRIAL DISEASES; MUTATION; RNA, TRANSFER, GLU;

EID: 44349101954     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0587-8     Document Type: Article

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