Emery-Dreifuss muscular dystrophy

Eur J Hum Genet. 2002 Mar;10(3):157-61. doi: 10.1038/sj.ejhg.5200744.

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.

Publication types

  • Review

MeSH terms

  • Genes, Dominant
  • Humans
  • Lamins
  • Membrane Proteins / genetics
  • Models, Genetic
  • Muscular Dystrophy, Emery-Dreifuss / diagnosis*
  • Muscular Dystrophy, Emery-Dreifuss / genetics*
  • Mutation
  • Nuclear Proteins / genetics
  • Thymopoietins / genetics
  • X Chromosome

Substances

  • Lamins
  • Membrane Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin

Associated data

  • OMIM/181350
  • OMIM/310300