Article
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
Human molecular genetics - 1 May 1998
Manilal S, Recan D, Sewry C A, Hoeltzenbein M, Llense S, Leturcq F, Deburgrave N, Barbot J, Man N, Muntoni F, Wehnert M, Kaplan J, Morris G E
Abstract excerpt
Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had mutations in the X-linked emerin gene, while three showed evidence of autosomal inheritance. Twelve of the 14 emerin mutations caused early term...
Topics
- Adolescent
- Adult
- Cell Line, Transformed
- Child
- DNA Mutational Analysis
- Female
- Humans
- Lymphocytes
- Male
- Membrane Proteins
- Middle Aged
- Muscular Dystrophies
- Muscular Dystrophy, Emery-Dreifuss
- Mutation
- Nuclear Proteins