A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia

Chin Med J (Engl). 2020 Aug 18;133(24):3023-3024. doi: 10.1097/CM9.0000000000000974.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Dynamin II / genetics
  • Humans
  • Muscle, Skeletal
  • Mutation
  • Myopathies, Structural, Congenital* / diagnosis
  • Myopathies, Structural, Congenital* / genetics
  • Myotonia*

Substances

  • DNM2 protein, human
  • Dynamin II