Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene

Rev Neurol (Paris). 2019 Mar;175(3):201-203. doi: 10.1016/j.neurol.2018.04.012. Epub 2018 Oct 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Glycogen Storage Disease Type IIb / complications
  • Glycogen Storage Disease Type IIb / diagnosis*
  • Glycogen Storage Disease Type IIb / genetics*
  • Glycogen Storage Disease Type IIb / physiopathology
  • Humans
  • Isolated Noncompaction of the Ventricular Myocardium / complications
  • Isolated Noncompaction of the Ventricular Myocardium / diagnosis*
  • Isolated Noncompaction of the Ventricular Myocardium / genetics
  • Lysosomal-Associated Membrane Protein 2 / genetics*
  • Male
  • Mutation*
  • Myotonia / complications
  • Myotonia / diagnosis*
  • Myotonia / genetics
  • Pedigree
  • Phenotype
  • Young Adult

Substances

  • LAMP2 protein, human
  • Lysosomal-Associated Membrane Protein 2