Article
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
Circulation - 6 Mar 2001
Ichida F, Tsubata S, Bowles K R, Haneda N, Uese K, Miyawaki T, Dreyer W J, Messina J, Li H, Bowles N E, Towbin J A
Abstract excerpt
BACKGROUND: Mutations in the gene G4.5 result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including isolated left ventricular noncompaction (LVNC), as well as Barth syndrome (BTHS) with dilated cardiomyopathy (DCM). The purpose of this study was to investigate patients with LVNC or BTHS for mutations in G4.5 or other novel genes. METHODS AND RESULTS: DNA was isolated from 2 families and 3...
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