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Article

Barth syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Aug 2013

Jefferies John L

Abstract excerpt

Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the mitochondria...

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Identifiers

PMID: 23843353
DOI: 10.1002/ajmg.c.31372
PMCID: PMC3892174

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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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