Article
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.
Human mutation - 1 Jan 1997
Wulff K, Parrish J E, Herrmann F H, Wehnert M
Abstract excerpt
Mutations in the emerin gene, also referred to as the STA- or EMD-gene, have been found to be the cause of X-linked Emery-Dreifuss muscular dystrophy (EMD). For the present study an optimized set of primers was designed to amplify and sequence each of the six emerin gene exons, including the intr...
Topics
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Exons
- Female
- Genetic Linkage
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Muscular Dystrophies
- Muscular Dystrophy, Emery-Dreifuss
- Mutation
- Nuclear Proteins
- Nucleic Acid Heteroduplexes
- Polymerase Chain Reaction
- Promoter Regions, Genetic
- Thymopoietins