Article
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
American journal of human genetics - 1 Oct 1997
D'Adamo P, Fassone L, Gedeon A, Janssen E A, Bione S, Bolhuis P A, Barth P G, Wilson M, Haan E, Orstavik K H, Patton M A, Green A J, Zammarchi E, Donati M A, Toniolo D
Abstract excerpt
Barth syndrome (BTHS) is an X-linked disorder characterized clinically by the associated features of cardiac and skeletal myopathy, short stature, and neutropenia. The clinical manifestations of the disease are, in general, quite variable, but cardiac failure as a consequence of cardiac dilatation and hypertrophy is a constant finding and is the most common cause of death in the first months of life. X-linked...
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