Hypertrophic cardiomyopathy 6

Your Results

Sign In

Description

Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Heterogeneous

Genes

External Links

© 2024 Biocodify. All rights reserved.

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.