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Article

A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.

Annals of human genetics - 1 May 2015

Zapała Barbara, Płatek Teresa, Wybrańska Iwona

Abstract excerpt

Barth syndrome (BTHS) is an X-linked recessive disease primarily affecting males. Clinically, the disease is characterized by hypertrophic or dilated cardiomyopathy, skeletal myopathy, chronic/cyclic neutropenia, 3-methylglutaconic aciduria, growth retardation and respiratory chain dysfunction. It is caused by mutations in the TAZ gene coding for the tafazzin protein which is responsible for cardiolipin...

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Identifiers

PMID: 25776009
DOI: 10.1111/ahg.12108
PMCID: PMC4654251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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