Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome

2001558 citationsJournal Article

Authors

Fukiko Ichida · Tohoku Medical and Pharmaceutical University

Shinichi Tsubata · Tohoku Medical and Pharmaceutical University

Karla R. Bowles · Tohoku Medical and Pharmaceutical University

Noriyuki Haneda · Tohoku Medical and Pharmaceutical University

Keiichiro Uese · Tohoku Medical and Pharmaceutical University

Toshio Miyawaki · Tohoku Medical and Pharmaceutical University

William J. Dreyer

Abstract

These data demonstrate genetic heterogeneity in LVNC, with mutation of a novel gene, alpha-dystrobrevin, identified in LVNC associated with CHD. In addition, these results confirm that mutations in G4.5 result in a wide phenotypic spectrum of cardiomyopathies.

Topics & Keywords

Cardiomyopathy and Myosin Studies Neurogenetic and Muscular Disorders Research Muscle Physiology and Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Circulation

Volume 103, Issue 9, pp. 1256-1263

DOI: 10.1161/01.cir.103.9.1256

Field-Weighted Citation Impact: 11.22