Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)

Neurology. 2000 Apr 25;54(8):1704-5. doi: 10.1212/wnl.54.8.1704.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Creatine Kinase / blood
  • DNA Mutational Analysis
  • Disease Progression
  • Genes, Dominant / genetics*
  • Humans
  • Infant
  • Lamins
  • Male
  • Membrane Proteins / biosynthesis
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophy, Emery-Dreifuss / blood
  • Muscular Dystrophy, Emery-Dreifuss / diagnosis*
  • Muscular Dystrophy, Emery-Dreifuss / genetics*
  • Nuclear Proteins / genetics
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Thymopoietins / biosynthesis

Substances

  • Lamins
  • Membrane Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin
  • Creatine Kinase