Open AccessNovel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome
Author(s) -
Fukiko Ichida,
Shinichi Tsubata,
Karla R. Bowles,
Noriyuki Haneda,
Keiichiro Uese,
Toshio Miyawaki,
William J. Dreyer,
John Messina,
Hua Li,
Neil E. Bowles,
Jeffrey A. Towbin
Publication year - 2001
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/01.cir.103.9.1256
Subject(s) - left ventricular noncompaction , missense mutation , exon , genetics , mutation , cardiomyopathy , medicine , gene mutation , gene , biology , heart failure
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.
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