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Article

Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction.

European journal of pediatrics - 1 Mar 2012

Momoi Nobuo, Chang Bo, Takeda Izumi, Aoyagi Yoshimichi, Endo Kisei, Ichida Fukiko

Abstract excerpt

UNLABELLED: Barth syndrome is an X-linked disorder usually diagnosed in infancy. It is characterized by hypotonia, dilated cardiomyopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria. The syndrome is typically caused by mutations in the TAZ (G4.5) gene, which encodes a novel protein family called the tafazzins. We report the case of two brothers with Barth syndrome and left ventricular...

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Identifiers

PMID: 21987083
DOI: 10.1007/s00431-011-1597-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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