Skin changes in Ullrich congenital muscular dystrophy

Neuromuscul Disord. 2008 Dec;18(12):982. doi: 10.1016/j.nmd.2008.07.011. Epub 2008 Oct 22.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Collagen Type VI / genetics*
  • Diagnosis, Differential
  • Humans
  • Male
  • Muscle Weakness / genetics
  • Muscle Weakness / pathology
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology*
  • Mutation, Missense*
  • Skin / pathology*

Substances

  • COL6A2 protein, human
  • Collagen Type VI