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KMID : 0191120130280050784
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Journal of Korean Medical Science
2013 Volume.28 No. 5 p.784 ~ p.787
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A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection
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Kim Gi-Beom
Kwon Bo-Sang
Bae Eun-Jung
Noh Chung-Il
Seong Moon-Woo
Park Sung-Sup
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Abstract
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A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found a novel hemizygous frame shift mutation in his TAZ gene, c.227delC (p.Pro76LeufsX7), which was inherited from his mother. Herein, we report a patient with Barth syndrome who had a novel mutation in TAZ gene and experienced unexpected acute exacerbation after contrast dye injection for computed tomographic angiography.
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KEYWORD
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Barth Syndrome, Tafazzin Gene, Cardiomyopathy, Cardiolipin, Neutropenia
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