Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

Clin Genet. 2021 Mar;99(3):481-483. doi: 10.1111/cge.13884. Epub 2020 Nov 23.
No abstract available

Publication types

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

MeSH terms

  • Cardiomyopathy, Hypertrophic / genetics*
  • Female
  • Genetic Variation
  • Glycogen Storage Disease Type IIb / diagnosis
  • Glycogen Storage Disease Type IIb / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Inheritance Patterns
  • Loss of Function Mutation
  • Lysosomal-Associated Membrane Protein 2 / genetics*

Substances

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