A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

Objective: Barth syndrome is an X-linked recessive disorder characterized by dilated cardiomyopathy, neutropenia, 3-methylglutaconic aciduria, abnormal mitochondria, variably expressed skeletal myopathy, and growth delay. The disorder is caused by mutations in the tafazzin (TAZ/G4.5) gene located on...

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Autores principales: Fan, Yuxin, Steller, Jon, Gonzalez, Iris L., Kulik, Wim, Fox, Michelle, Chang, Richard, Westerfield, Brandy A., Batra, Anjan S., Wang, Raymond Yu Jeang, Gallant, Natalie M., Pena, Liana S., Wang, Hu, Huang, Taosheng, Bhuta, Sunita, Penny, Daniel J., McCabe, Edward R., Kimonis, Virginia E.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755548/
https://ncbi.nlm.nih.gov/pubmed/23606313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_228
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