A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family

J Hum Genet. 2023 Feb;68(2):107-109. doi: 10.1038/s10038-022-01085-2. Epub 2022 Oct 11.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • MAP Kinase Kinase Kinases* / genetics
  • Muscle, Skeletal
  • Mutation
  • Myopathies, Structural, Congenital* / genetics
  • Pakistan

Substances

  • MAP3K20 protein, human
  • MAP Kinase Kinase Kinases