The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

Neurology. 2005 Jan 25;64(2):374-6. doi: 10.1212/01.WNL.0000149763.15180.00.

Abstract

The authors report the clinical and histologic phenotypes of a LGMD1B family including a newborn child with a homozygous LMNA nonsense mutation (Y259X). At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Codon, Nonsense*
  • Consanguinity
  • Fatal Outcome
  • Female
  • Genes, Lethal*
  • Homozygote
  • Humans
  • Infant, Newborn
  • Lamin Type A / genetics*
  • Male
  • Pedigree
  • Phenotype

Substances

  • Codon, Nonsense
  • Lamin Type A