Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies

Am J Med Genet A. 2007 Sep 15;143A(18):2215-9. doi: 10.1002/ajmg.a.31899.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Adult
  • Contracture / genetics*
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / physiopathology*
  • Female
  • Humans
  • Muscle Weakness / genetics*
  • Tenascin / genetics*

Substances

  • Tenascin
  • tenascin X