An adult with a rare form of congenital fiber type disproportion

Muscle Nerve. 2018 Jan;57(1):E97-E99. doi: 10.1002/mus.25954. Epub 2017 Sep 23.
No abstract available

Keywords: CFTD; TPM2; congenital fiber type disproportion; congenital myopathy; restrictive lung disease; tropomyosin.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Middle Aged
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics
  • Myopathies, Structural, Congenital / genetics
  • Myopathies, Structural, Congenital / pathology*
  • Myopathies, Structural, Congenital / physiopathology
  • Tropomyosin / genetics

Substances

  • TPM2 protein, human
  • Tropomyosin