A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene

Barth syndrome (BTHS) is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3‐methylglutaconic aciduria. The causative pathogenic variants for BTHS are in TAZ, which encodes a putative acyltransferase named tafazzin and is involved in the remodeling of cardiolipin in the in...

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Detalles Bibliográficos
Autores principales: Takeda, Atsuhito, Ueki, Masahiro, Abe, Jiro, Maeta, Kazuhiro, Horiguchi, Tomoko, Yamazawa, Hirokuni, Izumi, Gaku, Chida‐Nagai, Ayako, Sasaki, Daisuke, Tsujioka, Takao, Sato, Itsumi, Shiraishi, Masahiro, Matsuo, Masafumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337275/
https://www.ncbi.nlm.nih.gov/pubmed/37186429
http://dx.doi.org/10.1002/mgg3.2190

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337275/
https://www.ncbi.nlm.nih.gov/pubmed/37186429
http://dx.doi.org/10.1002/mgg3.2190

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