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Article

Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jun 2021

Sivitskaya Larysa, Danilenko Nina, Motuk Iryna, Zhelev Nikolai

Abstract excerpt

Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated. Genetic screening found a new variant in the junction of intron 2 and exon 3 of the TAZ gene -...

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Identifiers

PMID: 34355125
DOI: 10.36185/2532-1900-047
PMCID: PMC8290511

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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