ArticleJournal of Korean medical science2013
A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.
Article in Journal of Korean medical science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Review
- SERCA2a tyrosine nitration coincides with impairments in maximal SERCA activity in left ventricles from tafazzin-deficient mice.Physiological reports · 2019Article
- Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome.Journal of cardiovascular ultrasound · 2016Article
- Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach.Journal of multidisciplinary healthcare · 2015Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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