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Article

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

European journal of human genetics : EJHG - 1 Dec 2015

Ferri Lorenzo, Donati Maria A, Funghini Silvia, Cavicchi Catia, Pensato Viviana, Gellera Cinzia, Natacci Federica, Spaccini Luigina, Gasperini Serena, Vaz Frédéric M, Cooper David N, Guerrini Renzo, Morrone Amelia

Abstract excerpt

Infantile-onset skeletal myopathy Barth syndrome (OMIM #302060) is caused by mutations in the X-linked TAZ gene and hence usually manifests itself only in hemizygous males. Confirmatory testing is provided by mutational analysis of the TAZ gene and/or by biochemical dosage of the monolysocardiolipin/tetralinoleoyl cardiolipin ratio. Heterozygous females do not usually display a clinical phenotype but may undergo...

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Identifiers

PMID: 25782672
DOI: 10.1038/ejhg.2015.50
PMCID: PMC4795190

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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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