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Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome

BackgroundBarth syndrome is an X-linked disorder characterised by cardiomyopathy, growth abnormalities, neutropenia, and 3-methylglutaconic aciduria. It is caused by pathogenic variants in TAFAZZIN, which encodes a mitochondrial protein essential for cardiolipin remodelling. In this study, we descri...

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Hoofdauteurs: Emma S. Singer, Janine Smith, Richard Lin, Ansley M. Morrish, Sean Lal, Claire Irving, Charlene Casey, Ingrid King, Robert G. Weintraub, Richard D. Bagnall
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2026-02-01
Reeks:Frontiers in Cardiovascular Medicine
Onderwerpen:
5' untranslated region
Barth syndrome
cardiomyopathy
start loss
TAFAZZIN
Online toegang:https://www.frontiersin.org/articles/10.3389/fcvm.2026.1766067/full
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