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Article

A novel X-linked gene, G4.5. is responsible for Barth syndrome.

Nature genetics - 1 Apr 1996

Bione S, D'Adamo P, Maestrini E, Gedeon A K, Bolhuis P A, Toniolo D

Abstract excerpt

Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia. The disease has been mapped to a very gene-rich region in distal portion of Xq28. We now report the identification of unique mutations in one of...

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PMID: 8630491
DOI: 10.1038/ng0496-385

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8630491-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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