Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome

Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome

BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria. This variable phenotype is caused by pathogenic hemizygous variants of the TAFAZZIN gene on the X chromosome, which impair metabolism of...

Full description

Bibliographic Details
Main Authors: Nicola Tovaglieri, Silvia Russo, Emanuele Micaglio, Angela Corcelli, Simona Lobasso
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Pediatrics
Subjects:
rare X-linked disease
TAFAZZIN
cardiolipin remodeling
cardiomyopathy
neutropenia
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1250772/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1250772/full

Similar Items