Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome

Barth syndrome (BTHS) is an X-linked mitochondrial defect characterised by dilated cardiomyopathy, neutropaenia and 3-methylglutaconic aciduria (3-MGCA). We report on two affected brothers with c.646G > A (p.G216R) TAZ gene mutations. The pathogenicity of the mutation, as indicated by the structu...

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主要な著者: Karkucinska-Wieckowska, Agnieszka, Trubicka, Joanna, Werner, Bozena, Kokoszynska, Katarzyna, Pajdowska, Magdalena, Pronicki, Maciej, Czarnowska, Elzbieta, Lebiedzinska, Magdalena, Sykut-Cegielska, Jolanta, Ziolkowska, Lidia, Jaron, Weronika, Dobrzanska, Anna, Ciara, Elzbieta, Wieckowski, Mariusz R., Pronicka, Ewa
フォーマット: Artigo
言語:Inglês
出版事項: Springer Netherlands 2013
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3825551/
https://ncbi.nlm.nih.gov/pubmed/23361305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-013-9584-4
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