Centronuclear myopathy with cardiomyopathy due to recessive titinopathy

Muscle Nerve. 2019 Apr;59(4):E26-E27. doi: 10.1002/mus.26429. Epub 2019 Feb 12.
No abstract available

Keywords: TTN; cardiomyopathy; centronuclear myopathy; titin; titinopathy.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Connectin / genetics*
  • Female
  • Genes, Recessive / genetics
  • Humans
  • Middle Aged
  • Muscle Weakness / etiology
  • Muscle, Skeletal / pathology
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology
  • Pedigree

Substances

  • Connectin
  • TTN protein, human