A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene

Ann Neurol. 1997 Mar;41(3):399-402. doi: 10.1002/ana.410410316.

Abstract

We report on a Japanese family affected by Emery-Dreifuss muscular dystrophy carrying a novel mutation of the emerin (STA) gene. The cardinal clinical feature of the family was cardiac conduction block and mild myopathy. A deletion of 11 bp with a frameshift was identified in exon 6, causing truncation of the predicted protein. The relationship between mutation and phenotype is discussed.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Female
  • Frameshift Mutation*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Muscular Dystrophies / genetics*
  • Nuclear Proteins
  • Pedigree
  • Polymerase Chain Reaction
  • Thymopoietins / genetics*

Substances

  • Membrane Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin