Article
Natural history of Barth syndrome: a national cohort study of 22 patients.
Orphanet journal of rare diseases - 8 May 2013
Rigaud Charlotte, Lebre Anne-Sophie, Touraine Renaud, Beaupain Blandine, Ottolenghi Chris, Chabli Allel, Ansquer Helene, Ozsahin Hulya, Di Filippo Sylvie, De Lonlay Pascale, Borm Betina, Rivier Francois, Vaillant Marie-Catherine, Mathieu-Dramard Michèle, Goldenberg Alice, Viot Géraldine, Charron Philippe, Rio Marlene, Bonnet Damien, Donadieu Jean
Abstract excerpt
BACKGROUND: This study describes the natural history of Barth syndrome (BTHS). METHODS: The medical records of all patients with BTHS living in France were identified in multiple sources and reviewed. RESULTS: We identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The estimated incidence of BTHS was 1.5 cases per million births (95%CI: 0.2-2.3). The median age at...
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