Article
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.
American journal of medical genetics. Part A - 1 May 2004
Barth Peter G, Valianpour Fredoen, Bowen Valerie M, Lam Jan, Duran Marinus, Vaz Frédéric M, Wanders Ronald J A
Abstract excerpt
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional impairments and 3-methylglutaconic aciduria that maps to Xq28. The associated G4.5 or TAZ gene has been identified but the encoded proteins have not yet been characterized. Following the prediction that the gene encodes one or more acyltransferases, lipid studies have shown a deficiency...
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