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

• Authors: A Todorova, B Halliger-Keller, M C Walter, M-C Dabauvalle, H Lochmüller, C R Müller
• Journal: Journal of medical genetics (J Med Genet) Vol. 40 Issue 10 Pg. e115 (Oct 2003) ISSN: 1468-6244 [Electronic] England
• PMID: 14569138 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Lamins
• RNA, Messenger

Topics

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