A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Neuromuscul Disord. 2006 Mar;16(3):178-82. doi: 10.1016/j.nmd.2005.12.004. Epub 2006 Feb 17.

Abstract

Mutations in the gene encoding the gamma2 subunit of AMP-activated protein kinase (PRKAG2) cause familial cardiac hypertrophy and electrophysiological abnormalities, with glycogen accumulation in the heart of affected patients. The authors describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis. Considering those results, PRKAG2 gene could be a potential candidate for unexplained muscle glycogenosis associated with cardiac abnormalities.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • AMP-Activated Protein Kinases
  • Adult
  • Cardiomyopathy, Hypertrophic / genetics*
  • DNA Mutational Analysis / methods
  • Exercise
  • Glycogen Storage Disease / genetics*
  • Heart Conduction System / physiopathology*
  • Humans
  • Male
  • Multienzyme Complexes / genetics*
  • Muscle, Skeletal / pathology*
  • Mutation
  • Proline / genetics
  • Protein Serine-Threonine Kinases / genetics*
  • Serine / genetics

Substances

  • Multienzyme Complexes
  • Serine
  • Proline
  • Protein Serine-Threonine Kinases
  • AMP-Activated Protein Kinases