Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

Diane Fatkin, Calum MacRae, Takeshi Sasaki, Matthew R. Wolff, Maurizio Porcu, Michael Frenneaux, John Atherton, Humberto J. Vidaillet, Serena Spudich, Umberto De Girolami, J. G. Seidman, Francesco Muntoni, Gerry Müehle, Wendy Johnson, Barbara McDonough, Christine E. Seidman

Research output: Contribution to journalArticle

994 Citations (Scopus)

Abstract

Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset disease characterized by joint contractures and in some cases by abnormalities of cardiac conduction during adulthood.
Original languageEnglish
Pages (from-to)1715-24
Number of pages10
JournalNew England Journal of Medicine
Volume341
Issue number23
DOIs
Publication statusPublished - 2 Dec 1999

Keywords

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Arrhythmias, Cardiac
  • Cardiomyopathy, Dilated
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1
  • Female
  • Genes, Dominant
  • Genotype
  • Humans
  • Lamin Type A
  • Lamins
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Muscular Dystrophy, Emery-Dreifuss
  • Mutation, Missense
  • Nuclear Proteins
  • Pedigree
  • Protein Isoforms
  • Sequence Analysis, DNA

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