New clinical and molecular insights on Barth syndrome

BACKGROUND: Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3-methylglutaconic aciduria. It is caused by mutations in the TAZ gene encoding tafazzin, a protein involved in the metabolism of cardiolipi...

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Autors principals: Ferri, Lorenzo, Donati, Maria Alice, Funghini, Silvia, Malvagia, Sabrina, Catarzi, Serena, Lugli, Licia, Ragni, Luca, Bertini, Enrico, Vaz, Frédéréc M, Cooper, David N, Guerrini, Renzo, Morrone, Amelia
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3599367/
https://ncbi.nlm.nih.gov/pubmed/23409742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-27
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