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Article

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

The Journal of pediatrics - 1 Nov 2002

Valianpour Fredoen, Wanders Ronald J A, Overmars Henk, Vreken Peter, Van Gennip Albert H, Baas Frank, Plecko Barbara, Santer Rene, Becker Kolja, Barth Peter G

Abstract excerpt

We determined cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) and in two groups of control patients. High-performance liquid chromatography-electrospray mass spectrometry was used to quantify total cardiolipin and subclasses of cardiolipin molecular species in cultured skin fibroblasts. Total cardiolipin and...

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Source

Identifiers

PMID: 12410207
DOI: 10.1067/mpd.2002.129174

Provenance

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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