Lafora Disease Is an Inherited Metabolic Cardiomyopathy

J Am Coll Cardiol. 2017 Jun 20;69(24):3007-3009. doi: 10.1016/j.jacc.2017.04.029.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cardiomyopathies* / congenital
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / metabolism
  • Cardiomyopathies* / physiopathology
  • Disease Models, Animal
  • Dual-Specificity Phosphatases / genetics*
  • Echocardiography / methods
  • Glycogen / metabolism*
  • Humans
  • Lafora Disease* / diagnosis
  • Lafora Disease* / genetics
  • Lafora Disease* / physiopathology
  • Mice
  • Mice, Knockout
  • Mutation
  • Myocytes, Cardiac / metabolism
  • Myocytes, Cardiac / pathology
  • Protein Tyrosine Phosphatases, Non-Receptor
  • Seizures / diagnosis
  • Seizures / etiology
  • Stroke Volume
  • Ubiquitin-Protein Ligases / genetics*
  • Ventricular Dysfunction, Left* / diagnosis
  • Ventricular Dysfunction, Left* / genetics
  • Ventricular Dysfunction, Left* / physiopathology
  • Ventricular Remodeling / genetics

Substances

  • Glycogen
  • NHLRC1 protein, mouse
  • Ubiquitin-Protein Ligases
  • Dual-Specificity Phosphatases
  • Epm2a protein, mouse
  • Protein Tyrosine Phosphatases, Non-Receptor