Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

Nat Genet. 1996 Mar;12(3):254-9. doi: 10.1038/ng0396-254.


Mutations in the STA gene at the Xq28 locus have been found in patients with X-linked Emery-Dreifuss muscular dystrophy (EDMD). This gene encodes a hitherto unknown protein named 'emerin'. To elucidate the subcellular localization of emerin, we raised two antisera against synthetic peptide fragments predicted from emerin cDNA. Using both antisera, we found positive nuclear membrane staining in skeletal, cardiac and smooth muscles in the normal controls and in patients with neuromuscular diseases other than EDMD. In contrast, a deficiency in immunofluorescent staining of skeletal and cardiac muscle from EDMD patients was observed. A 34 kD protein is immunoreactive with the antisera--the protein is equivalent to that predicted for emerin. Together, our findings suggest the specific deficiency of emerin in the nuclear membrane of muscle cells in patients with EDMD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • DNA
  • Fluorescent Antibody Technique, Indirect
  • Humans
  • Immunoblotting
  • Male
  • Membrane Proteins / deficiency*
  • Molecular Sequence Data
  • Muscles / cytology
  • Muscles / metabolism
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophy, Emery-Dreifuss
  • Mutation
  • Nuclear Envelope / metabolism*
  • Nuclear Proteins
  • Subcellular Fractions
  • Thymopoietins / deficiency*


  • Membrane Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin
  • DNA