Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

Journal of Medical Genetics

Volumn 46, Issue 5, 2009, Pages 308-314

  Ware, S M ^a,f   El Hassan, N ^b   Kahler, S G ^c   Zhang, Q ^d   Ma, Y W ^d   Miller, E ^a   Wong, B ^a   Spicer, R L ^a   Craigen, W J ^d   Kozel, B A ^e   Grange, D K ^e   Wong, L J ^d  

^a UNIVERSITY OF CINCINNATI   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^c UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALPHA TOCOPHEROL; AMINO ACID; AMINOTRANSFERASE; AMMONIA; ARGININE; BENZOIC ACID; CARBOHYDRATE; CARNITINE; ESMOLOL; GLUTAMINE; INTRALIPID; KETONE; LACTIC ACID; LINOLEIC ACID; MITOCHONDRIAL ATPASE 6; MITOCHONDRIAL ATPASE 8; NITRIC OXIDE; OROTIC ACID; PROTEIN SUBUNIT; PROTHROMBIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; RIBOFLAVIN; SILDENAFIL; THIAMINE; THREONINE; TRYPTOPHAN; UBIDECARENONE; UNCLASSIFIED DRUG; UNINDEXED DRUG; VITAMIN;

ADJUVANT THERAPY; AMINOTRANSFERASE BLOOD LEVEL; ANEMIA; ARTICLE; ARTIFICIAL VENTILATION; BRAIN DISEASE; BRAIN SIZE; BRONCHIOLITIS; CASE REPORT; CITRIC ACID CYCLE; CONGESTIVE HEART FAILURE; DIARRHEA; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHOCARDIOGRAPHY; ECTOPIA CORDIS; ENTERIC FEEDING; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; GASTROINTESTINAL DISEASE; GENE MUTATION; HEART ARRHYTHMIA; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART TRANSPLANTATION; HETEROPLASMY; HUMAN; HUMAN TISSUE; HYDRONEPHROSIS; HYDROPHOBICITY; HYPERAMMONEMIA; HYPERTROPHIC CARDIOMYOPATHY; HYPOGLYCEMIA; INFANT; IRRITABILITY; KNOWLEDGE; LETHARGY; MALE; MITOCHONDRIAL GENOME; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PARTIAL THROMBOPLASTIN TIME; PERICARDIAL EFFUSION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RELATIVE; SINUS BRADYCARDIA; START CODON; SUPRAVENTRICULAR PREMATURE BEAT; SUPRAVENTRICULAR TACHYCARDIA; SYSTOLIC DYSFUNCTION; THROMBOCYTOPENIA; TOTAL PARENTERAL NUTRITION; VIRUS INFECTION; VOMITING; WEAKNESS; WOLFF PARKINSON WHITE SYNDROME;

BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUTATION;

EID: 66249119710     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.063149     Document Type: Article

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