Isolated cardiomyopathy in a pathogenic X-linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms

Am J Med Genet A. 2024 Mar;194(3):e63475. doi: 10.1002/ajmg.a.63475. Epub 2023 Nov 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / genetics
  • Creatine Kinase
  • Dystrophin / genetics
  • Exons / genetics
  • Humans
  • Muscular Dystrophy, Duchenne* / genetics
  • Sequence Deletion / genetics

Substances

  • Creatine Kinase
  • Dystrophin