Late onset distal myopathy: A new telethoninopathy

Neuromuscul Disord. 2019 Jan;29(1):80-83. doi: 10.1016/j.nmd.2018.11.001. Epub 2018 Nov 13.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Connectin / genetics*
  • Diagnosis, Differential
  • Distal Myopathies / diagnostic imaging
  • Distal Myopathies / genetics*
  • Distal Myopathies / pathology
  • Female
  • Humans
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation*

Substances

  • Connectin
  • TCAP protein, human