A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B

J Med Genet. 2003 Oct;40(10):e115. doi: 10.1136/jmg.40.10.e115.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Exons
  • Genetic Predisposition to Disease*
  • Humans
  • Lamins / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism
  • Mutation*
  • Pedigree
  • RNA Splicing*
  • RNA, Messenger / metabolism

Substances

  • Lamins
  • RNA, Messenger

Associated data

  • OMIM/115200
  • OMIM/151660
  • OMIM/159001
  • OMIM/176670
  • OMIM/181350
  • OMIM/248370
  • OMIM/605588