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 the genes in this region, termed G4.5, expressed at high level in cardiac and skeletal muscle. Different mRNAs can be...
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