Article
X chromosome inactivation in carriers of Barth syndrome.
American journal of human genetics - 1 Nov 1998
Orstavik K H, Orstavik R E, Naumova A K, D'Adamo P, Gedeon A, Bolhuis P A, Barth P G, Toniolo D
Abstract excerpt
Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found. No correlation between the location or type of mutation and the phenotype of BTHS has been found. Female carriers of BTHS seem to be healthy....
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