Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 9, 2013, Pages 3453-3458

  Strauss, Kevin A ^a,b,c   DuBiner, Lauren ^b   Simon, Mariella ^d   Zaragoza, Michael ^d   Sengupta, Partho P ^e   Li, Peng ^f   Narula, Navneet ^g   Dreike, Sandra ^d,h   Platt, Julia ^d,i   Procaccio, Vincent ^d,j   Ortiz González, Xilma R ^k   Puffenberger, Erik G ^a,b   Kelley, Richard I ^l   Morton, D Holmes ^a,b,c   Narula, Jagat ^e   Wallace, Douglas C ^d,k  

^a CLINIC FOR SPECIAL CHILDREN   (United States)

^b FRANKLIN AND MARSHALL COLLEGE   (United States)

^c LANCASTER GENERAL HOSPITAL   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e MOUNT SINAI MEDICAL CENTER   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g WEILL CORNELL MEDICAL COLLEGE   (United States)

^h KAPIOLANI MEDICAL CENTER FOR WOMEN AND CHILDREN   (United States)

ⁱ STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j ANGERS UNIVERSITY HOSPITAL   (France)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

ANT1; Mitochondrial disease; Oxidative phosphorylation; Oxidative stress; Variable penetrance

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; ADENINE NUCLEOTIDE TRANSLOCASE 1; ALPHA TOCOPHEROL; ANGIOTENSIN RECEPTOR ANTAGONIST; ASCORBIC ACID; ATENOLOL; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL BLOCKING AGENT; CARNITINE; CARVEDILOL; METOPROLOL; MITOCHONDRIAL DNA; NADOLOL; UBIDECARENONE; UNCLASSIFIED DRUG; VITAMIN B GROUP;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ADOLESCENT; ADRENERGIC ACTIVITY; ADULT; ARTERIOLE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CHEMISTRY; CARDIOMYOPATHY; CARDIOVASCULAR PARAMETERS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC IMAGING; DISEASE SEVERITY; DNA SEQUENCE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE; HAPLOTYPE; HEART CONTRACTION; HEART HYPERTROPHY; HEART LEFT VENTRICLE RELAXATION; HEART MITOCHONDRION; HEART MUSCLE FIBROSIS; HEART MUSCLE NECROSIS; HEART REPOLARIZATION; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPERALANINEMIA; INFANT; LACTIC ACIDOSIS; MALE; MITOCHONDRIAL DNA DISORDER; MYOPATHY; NULL ALLELE; PATIENT MONITORING; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SLC25A4 GENE; URINALYSIS; VASCULAR SMOOTH MUSCLE; VELOCITY VECTOR IMAGING;

ADENINE NUCLEOTIDE TRANSLOCATOR 1; ADOLESCENT; CARDIOMYOPATHIES; DISEASE PROGRESSION; DNA, MITOCHONDRIAL; FEMALE; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; MUTATION; MYOCARDIUM; PEDIGREE;

EID: 84874507192     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1300690110     Document Type: Article

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