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

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

Abstract 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...

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Bibliographic Details
Main Authors: Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo
Format: Article
Language:English
Published: Wiley 2023-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Barth syndrome
cardiomyopathy
left ventricular noncompaction
minigene
splicing variants
Online Access:https://doi.org/10.1002/mgg3.2190

Internet

https://doi.org/10.1002/mgg3.2190

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