Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

Acta Neuropathol. 2013 Jan;125(1):169-71. doi: 10.1007/s00401-012-1049-6. Epub 2012 Sep 27.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mosaicism*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics*
  • Mutation / physiology
  • Myopathies, Nemaline / genetics*
  • Myopathies, Nemaline / pathology
  • Tropomyosin / genetics*

Substances

  • TPM2 protein, human
  • Tropomyosin