Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy

Clin Genet. 2019 Jun;95(6):736-738. doi: 10.1111/cge.13534. Epub 2019 Mar 28.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child, Preschool
  • Collagen Type XII / genetics*
  • Collagen Type XII / metabolism
  • Exome Sequencing
  • Extracellular Matrix
  • Female
  • Humans
  • Infant
  • Joint Instability / genetics
  • Male
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Poland

Substances

  • COL12A1 protein, human
  • Collagen Type XII