Article
Diseases of the nuclear envelope.
Cold Spring Harbor perspectives in biology - 1 Feb 2010
Worman Howard J, Ostlund Cecilia, Wang Yuexia
Abstract excerpt
In the past decade, a wide range of fascinating monogenic diseases have been linked to mutations in the LMNA gene, which encodes the A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. These diseases include dilated cardiomyopathy with variable muscular dystrophy, Dunnigan-type familial partial lipodystrophy, a Charcot-Marie-Tooth type 2 disease, mandibuloacral dysplasia, and...
Topics
- Animals
- Cell Nucleus
- DNA Mutational Analysis
- Genetic Diseases, Inborn
- Humans
- Lamin Type A
- Models, Biological
- Models, Genetic
- Mutation
- Nuclear Envelope
- Nuclear Lamina
- Phenotype