A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy

Hum Genet. 1996 May;97(5):693-4. doi: 10.1007/BF02281886.

Abstract

Sequencing of the STA gene in a patient with Emery-Dreifuss muscular dystrophy showed a 1-bp deletion of C at nucleotide 672 or 673. This deletion causes a frameshift, changing the amino acid sequence (amino acids 206-235) and generating an early stop codon.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Composition
  • Base Sequence
  • Child
  • DNA Primers
  • Exons
  • Humans
  • Introns
  • Japan
  • Male
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Nuclear Proteins
  • Polymerase Chain Reaction
  • Protein Conformation
  • Reference Values
  • Sequence Deletion*
  • Thymopoietins / chemistry
  • Thymopoietins / genetics*
  • X Chromosome

Substances

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

Associated data

  • GENBANK/D64111