Article
[Emery-Dreifuss muscular dystrophy].
Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1997
Kubo S, Tsukahara T, Arahata K
Abstract excerpt
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder characterized by the triad of progressive weakness in humero-peroneal muscles, early onset contractures and cardiomyopathy with conduction block that shows a high risk of sudden death. In 1994, the gene responsible for X-l...
Topics
- Cardiomyopathies
- Death, Sudden, Cardiac
- Genes, Recessive
- Humans
- Membrane Proteins
- Muscular Dystrophies
- Muscular Dystrophy, Emery-Dreifuss
- Mutation
- Nuclear Proteins
- Thymopoietins
- X Chromosome