Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 428-432

  Ronvelia, Diti ^a   Greenwood, Jaclyn ^a   Platt, Julia ^a   Hakim, Simin ^a   Zaragoza, Michael V ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Barth syndrome; Cardiomyopathy; Mutation; Noncompaction; TAZ gene

Indexed keywords

3 METHYLGLUTACONIC ACID; ANTIBIOTIC AGENT; CREATINE KINASE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MEMBRANE PROTEIN; TAFAZZIN; UNCLASSIFIED DRUG;

ADULT; ANTIBIOTIC THERAPY; ARTICLE; BARTH SYNDROME; CASE REPORT; CHILDHOOD; CONGESTIVE CARDIOMYOPATHY; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EXON; FAILURE TO THRIVE; FEEDING DISORDER; FOLLOW UP; GENE MUTATION; GENETIC VARIABILITY; HEART FAILURE; HUMAN; HYPOGLYCEMIA; INFANT; LACTIC ACIDOSIS; LETHARGY; MALE; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEUTROPENIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SEQUENCE ANALYSIS; URINALYSIS; VENTRICULAR NONCOMPACTION;

BARTH SYNDROME; CARDIOLIPINS; CARDIOMYOPATHY, DILATED; CODON, NONSENSE; EXONS; GENETIC HETEROGENEITY; GLUTARATES; HEART DEFECTS, CONGENITAL; HEART FAILURE; HUMANS; INFANT; MALE; MIDDLE AGED; MYOCARDIUM; NEUTROPENIA; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 84867901385     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.013     Document Type: Article

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