Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

Neuromuscul Disord. 2002 Dec;12(10):984-93. doi: 10.1016/s0960-8966(02)00139-6.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Collagen Type VI / genetics*
  • Creatine Kinase / blood
  • Diagnosis, Differential
  • Bildung
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / classification
  • Muscular Diseases / diagnosis
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics*
  • Muscular Dystrophies / enzymology
  • Muscular Dystrophies / genetics
  • Mutation

Substances

  • Collagen Type VI
  • Creatine Kinase

Associated data

  • OMIM/120220
  • OMIM/120240
  • OMIM/120250
  • OMIM/158810