Muscle MRI in Bethlem myopathy

BMJ Case Rep. 2013 Apr 16:2013:bcr2013008596. doi: 10.1136/bcr-2013-008596.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Collagen Type VI / genetics
  • Contracture / complications
  • Contracture / diagnosis*
  • Contracture / genetics
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Muscle Weakness / etiology
  • Muscle, Skeletal / pathology*
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics

Substances

  • COL6A2 protein, human
  • Collagen Type VI

Supplementary concepts

  • Bethlem myopathy