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Ann Neurol. 2002 May;51(5):634-7.

Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.

Author information

1
Department of Anesthesiology, Hospital for Special Surgery, New York, NY, USA. schlame@hotmail.com

Abstract

Barth syndrome is an X-linked cardiac and skeletal mitochondrial myopathy. Barth syndrome may be due to lipid alterations because the product of the mutated gene is homologous to phospholipid acyltransferases. Here we document that a single mitochondrial phospholipid species, tetralinoleoyl-cardiolipin, was lacking in the skeletal muscle (n = 2), right ventricle (n = 2), left ventricle (n = 2), and platelets (n = 6) of 8 children with Barth syndrome. Tetralinoleoyl-cardiolipin is specifically enriched in normal skeletal muscle and the normal heart. These findings support the notion that Barth syndrome is caused by alterations of mitochondrial lipids.

PMID:
12112112
DOI:
10.1002/ana.10176
[Indexed for MEDLINE]

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