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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825551/
https://www.ncbi.nlm.nih.gov/pubmed/23361305
http://dx.doi.org/10.1007/s10545-013-9584-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825551/
https://www.ncbi.nlm.nih.gov/pubmed/23361305
http://dx.doi.org/10.1007/s10545-013-9584-4

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