Article
A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.
European journal of human genetics : EJHG - 1 Jan 2003
Vesel Samo, Stopar-Obreza Mirjam, Trebusak-Podkrajsek Katarina, Jazbec Janez, Podnar Tomaz, Battelino Tadej
Abstract excerpt
Barth syndrome is an X-linked recessive disorder characterised by dilated cardiomyopathy and a variable expression of skeletal myopathy, short statue and neutropenia. Molecular genetic analysis is currently the most reliable diagnostic method. A kindred with a novel 535delC mutation in the G4.5 (TAZ) gene responsible for Barth syndrome is presented. Beside the patient, the same mutation was detected in patient's...
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