Barth syndrome in a female patient

Molecular Genetics and Metabolism

Volumn 106, Issue 1, 2012, Pages 115-120

  Cosson, Laure ^a   Toutain, Annick ^a   Simard, Gilles ^b   Kulik, Willem ^c   Matyas, Gabor ^d   Guichet, Agnès ^e   Blasco, Hélène ^a   Maakaroun Vermesse, Zoha ^a   Vaillant, Marie Catherine ^a   Le Caignec, Cédric ^e   Chantepie, Alain ^a   Labarthe, François ^a,f  

^a UNIVERSITÉ DE TOURS   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f CHRU de Tours   (France)

Author keywords

Barth syndrome; Cardiomyopathy; Isolated noncompaction of the ventricular myocardium; TAZ gene; X chromosome abnormality; X linked inheritance

Indexed keywords

CARDIOLIPIN; CITRATE SYNTHASE; CYTOCHROME C OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ARTICLE; BARTH SYNDROME; CASE REPORT; CHILD; CYTOGENETICS; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FEMALE; FIBROBLAST; GENETIC ANALYSIS; HEART FAILURE; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; MONOSOMY X; MOSAICISM; MUSCLE WEAKNESS; NEUTROPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SEPTIC SHOCK;

BARTH SYNDROME; CARDIOLIPINS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; INFANT; MALE; MITOCHONDRIAL MEMBRANES; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84860200035     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.01.015     Document Type: Article

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